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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:
CA918500852
Gene:
Linked Data
dbSNP Id:
rs1564092961
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.87416767_87416770del , CM000671.2:g.87416767_87416770del
GRCh38
NC_000009.11:g.90031682_90031685del , CM000671.1:g.90031682_90031685del
GRCh37
NC_000009.10:g.89221502_89221505del
NCBI36
Search 100 bp 5'
Search 100 bp 3'