Canonical Allele Identifier: PA2830179967
Gene: OPA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570844.1:p.Pro364Leu
CA274972
NM_130831.2:c.1091C>T