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: PA645469119

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432045

ClinVar RCV Id: RCV000498233

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570850.2:p.Arg401Gln	CA355788891 NM_130837.2:c.1202G>A