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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:
CA2549485457
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.81774483_81774526del , CM000669.2:g.81774483_81774526del
GRCh38
NC_000007.13:g.81403799_81403842del , CM000669.1:g.81403799_81403842del
GRCh37
NC_000007.12:g.81241735_81241778del
NCBI36
NG_016274.1:g.611_654del
NG_016274.2:g.611_654del
Search 100 bp 5'
Search 100 bp 3'