Canonical Allele Identifier: PA2830182167
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50866
ClinVar RCV Id: RCV000043607 RCV000081747 RCV000210748 RCV000677258 RCV001249638 RCV001267306 RCV004537182 RCV003993775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570847.2:p.Ile400Met
CA143824
NM_130834.2:c.1200A>G