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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000268097.6:p.[Gly455del;Ala457_Trp460delinsArgLeuValCys;Tyr463_Asn466delinsAsnMetTrpThr;Asn468_Val470delinsGlnThrTrpSer;Arg472_Trp474delinsGlySerGly;Arg476_Ala477delinsGluGln;Ala479_Leu484delinsLeuLeuProLysGlyCys]
CA2739269539
ENST00000268097.10:c.1364del