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Canonical Allele Identifier: Get Identifier
Gene: APTX HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355926.1:p.[Arg199_Leu203del;Leu205_Trp207del;Ser209_Ser211delinsIleGlyTrp;Leu213_Ala217delinsTyr;Glu219_His228delinsGlyProProPheProVal]
CA587565624
NM_001368997.1:c.595del