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: PA2827914451

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1190929

ClinVar RCV Id: RCV001551826

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341593.1:p.Gln173Pro	CA355788195 NM_001354664.2:c.518A>C