Allele Registry

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.

Canonical Allele Identifier: PA2825290243

Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 7099

ClinVar RCV Id: RCV000007517 RCV000007516 RCV000177328 RCV000269750 RCV000324769 RCV001705584 RCV001512340 RCV002490331

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.Met98Lys	CA118632 NM_001008212.2:c.293T>A