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Canonical Allele Identifier: Get Identifier
Gene: PPT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492984.1:p.[Leu15_Cys19delinsGlyCysGlySerPro;Ser21_Ala23delinsMetAsp;Gln25_Pro30delinsArgPheSerGlyAlaAla;Pro32_Leu33delinsSerGly;Leu35_His39delinsAlaGlyAlaAlaAlaVal;Met41delinsAspLeu;Val43_Ala44delinsTrpAspGlyCysCys]
CA789851
ENST00000641548.1:c.30_42dup