Canonical Allele Identifier: PA2830183713
Gene: OPA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570849.2:p.Pro437Leu
CA274972
NM_130836.2:c.1310C>T