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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000436695.2:p.[Asn143_Leu147del;Lys149_Ile160delinsProAspGlyProGluGlu;Asp162_Val164delinsCys;Ser166Gly;Trp168_Tyr172delinsIleProGln]
CA16040727
ENST00000527311.6:c.428dup