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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000403207.1:p.[Leu176_Gly177insAspGluThrArgIleValHisAsnArgAlaGln;Gly177_Ter178insAlaProAsnSerSerLysProHisGlyArgGlnPheProSerCysProSer]
CA1000854048
ENST00000439754.5:c.526del