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Canonical Allele Identifier: Get Identifier
Gene: OPA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376233.3:p.[Asp550_Cys551delinsAlaAla;Trp553Gly;Met555_Arg557delinsTrpTyr;Val560_Phe567delinsLeuLeuAsnAsnArgLeuIleValSer;Ala569_Asn573delinsGlnHisValLeuThr;Glu575_Lys579delinsLysLeuAsnGlyArg]
CA16617865
ENST00000392438.7:c.1649del