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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:
CA2776307346
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68354985_68354986insACA , CM000669.2:g.68354985_68354986insACA
GRCh38
NC_000007.13:g.67819972_67819973insACA , CM000669.1:g.67819972_67819973insACA
GRCh37
NC_000007.12:g.67457908_67457909insACA
NCBI36
Search 100 bp 5'
Search 100 bp 3'