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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392293.2:p.[Leu202_Gly203insAspGluThrArgIleValHisAsnArgAlaGln;Gly203_Ter204insAlaProAsnSerSerLysProHisGlyArgGlnPheProSerCysProSer]
CA1000854048
ENST00000449045.7:c.604del