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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA982865264
Gene:
Linked Data
gnomAD v3:
17-30237139-G-GCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
gnomAD v4:
17-30237139-G-GCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237139_30237140insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC , CM000679.2:g.30237139_30237140insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
GRCh38
NC_000017.10:g.28564157_28564158insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC , CM000679.1:g.28564157_28564158insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
GRCh37
NC_000017.9:g.25588283_25588284insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
NCBI36
NG_011747.2:g.3797_3798insGCCCTTCCAGCATCCCCCTGCACCCCCAGCATCCCCCCTG
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+69_165+70insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
XR_001752824.1:n.280+69_280+70insCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGC
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