Canonical Allele Identifier: PA223208
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30461
ClinVar RCV Id: RCV000023415 RCV000508898 RCV001659726 RCV002464072
ClinVar Variation Id: 95712
ClinVar RCV Id: RCV000175211 RCV004529860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570850.2:p.Ser600Arg
CA223205
NM_130837.2:c.1800C>A
CA10575554
NM_130837.2:c.1800C>G
CA355790437
NM_130837.2:c.1798A>C