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Canonical Allele Identifier: Get Identifier
Gene: ACAT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373619.1:p.[Tyr317_Gly318delinsSerCysGlnTyr;Ala320_Gly328delinsGlnTrpArgArgArgCysPheCysHis;Ala329_Ser330insAsn;Ser330_Ala331insGlu;Met332_Lys336delinsValAspAsnLeuCysTyr;Leu337_Ter338insArgArgGlnPro]
CA2615845061
NM_001386690.1:c.950_954del