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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000394863.4:p.[Asn217_Leu221del;Lys223_Ile234delinsProAspGlyProGluGlu;Asp236_Val238delinsCys;Ser240Gly;Trp242_Tyr246delinsIleProGln]
CA16040727
ENST00000433473.8:c.650dup