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: PA2580505757

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2010552

ClinVar RCV Id: RCV002834068

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570850.2:p.Gly350Val	CA355788168 NM_130837.2:c.1049G>T