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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000394863.3:p.[Asn218_Leu222del;Lys224_Ile235delinsProAspGlyProGluGlu;Asp237_Val239delinsCys;Ser241Gly;Trp243_Tyr247delinsIleProGln]
CA16040727
ENST00000433473.7:c.653dup