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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:
CA2559833545
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.92314781_92314782del , CM000677.2:g.92314781_92314782del
GRCh38
NC_000015.9:g.92858011_92858012del , CM000677.1:g.92858011_92858012del
GRCh37
NC_000015.8:g.90659015_90659016del
NCBI36
Search 100 bp 5'
Search 100 bp 3'