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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:
CA1341493601
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.3190064_3190066delinsCCA , CM000665.2:g.3190064_3190066delinsCCA
GRCh38
NC_000003.11:g.3231748_3231750delinsCCA , CM000665.1:g.3231748_3231750delinsCCA
GRCh37
NC_000003.10:g.3206748_3206750delinsCCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'