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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:
CA1447764522
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.30466502_30466503delinsTA , CM000666.2:g.30466502_30466503delinsTA
GRCh38
NC_000004.11:g.30468124_30468125delinsTA , CM000666.1:g.30468124_30468125delinsTA
GRCh37
NC_000004.10:g.30077222_30077223delinsTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'