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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:
CA2255111972
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237290_30237313delinsGTGCAGGGGAGATGCTGGGGGGGC , CM000679.2:g.30237290_30237313delinsGTGCAGGGGAGATGCTGGGGGGGC
GRCh38
NC_000017.10:g.28564308_28564331delinsGTGCAGGGGAGATGCTGGGGGGGC , CM000679.1:g.28564308_28564331delinsGTGCAGGGGAGATGCTGGGGGGGC
GRCh37
NC_000017.9:g.25588434_25588457delinsGTGCAGGGGAGATGCTGGGGGGGC
NCBI36
NG_011747.2:g.3624_3647delinsGCCCCCCCAGCATCTCCCCTGCAC
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+220_165+243delinsGTGCAGGGGAGATGCTGGGGGGGC
XR_001752824.1:n.280+220_280+243delinsGTGCAGGGGAGATGCTGGGGGGGC
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