Canonical Allele Identifier: PA2830183509
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927071
ClinVar RCV Id: RCV002609705

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570849.2:p.Arg194Ser
CA355788218
NM_130836.2:c.582A>C
CA355788220
NM_130836.2:c.582A>T