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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.[Gly466del;Ala468_Trp471delinsArgLeuValCys;Tyr474_Asn477delinsAsnMetTrpThr;Asn479_Val481delinsGlnThrTrpSer;Arg483_Trp485delinsGlySerGly;Arg487_Ala488delinsGluGln;Ala490_Leu495delinsLeuLeuProLysGlyCys]
CA2739269539
ENST00000566304.5:c.1397del