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: PA2829799759

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2905648

ClinVar RCV Id: RCV003731808

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056375.2:p.Met321Ile	CA2759264 NM_015560.3:c.963G>A CA355788472 NM_015560.3:c.963G>T CA355788473 NM_015560.3:c.963G>C