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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:
CA2757057246
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.84431875_84431883del , CM000665.2:g.84431875_84431883del
GRCh38
NC_000003.11:g.84481026_84481034del , CM000665.1:g.84481026_84481034del
GRCh37
NC_000003.10:g.84563716_84563724del
NCBI36
Search 100 bp 5'
Search 100 bp 3'