Canonical Allele Identifier: PA3057576487
Gene: OPA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570850.2:p.Arg38_Ser43dup
CA904541900
NM_130837.2:c.113_130dup