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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000434007.1:p.[Glu67Lys;Asp69_Trp77delinsThrIlePheSerCysLeuLysAsnGly;Tyr79_Ala80delinsMetProThrSerTyr;Ile82delinsSerLeuAspGluThrArg;Pro84_Gly87delinsValHisAsnArg]
CA2574453141
ENST00000530076.5:c.198del