Canonical Allele Identifier: PA2830181236
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 344482
ClinVar RCV Id: RCV000390873 RCV000489535 RCV000765718
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570846.1:p.Ser164Phe
CA2759090
NM_130833.2:c.491C>T