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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
Allele Registry
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Canonical Allele Identifier:
CA982865854
Gene:
Linked Data
dbSNP Id:
rs1907316196
gnomAD v3:
17-30237248-GTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGC-G
gnomAD v4:
17-30237248-GTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237258_30237322del , CM000679.2:g.30237258_30237322del
GRCh38
NC_000017.10:g.28564276_28564340del , CM000679.1:g.28564276_28564340del
GRCh37
NC_000017.9:g.25588402_25588466del
NCBI36
NG_011747.2:g.3624_3688del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+188_165+252del
XR_001752824.1:n.280+188_280+252del
Search 100 bp 5'
Search 100 bp 3'