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: PA2827914450

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802038

ClinVar RCV Id: RCV000987378 RCV001374996

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341593.1:p.Asp172His	CA355788173 NM_001354664.2:c.514G>C