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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000493146.1:p.[Phe333_Leu334insPro;Leu334_Gly335insAspGluThrArgIleValHisAsnArgAlaGln;Gly335_Ter336insAlaProAsnSerSerLysProHisGlyArgGlnPheProSerCysProSer]
CA2645090623
ENST00000641471.1:c.999_1000dup