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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000455114.1:p.[Arg5_Ala17delinsPheGlyPheArgCysCysTrpArgGlnArgSerGlnAsp;Ala20_Gln31delinsArgProSerGlyProGlyLeuArgThrSerLysProPro;Asp34_Gln35del]
CA2629343948
ENST00000566304.5:c.13_16del