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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:
CA2757951374
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.112778842_112778845del , CM000665.2:g.112778842_112778845del
GRCh38
NC_000003.11:g.112497689_112497692del , CM000665.1:g.112497689_112497692del
GRCh37
NC_000003.10:g.113980379_113980382del
NCBI36
Search 100 bp 5'
Search 100 bp 3'