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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507748.1:p.[Ser9_Ala17delinsArgCysCysTrpArgGlnArgSerGlnAsp;Ala20_Gln31delinsArgProSerGlyProGlyLeuArgThrSerLysProPro;Asp34_Val38delinsAlaThrSer]
CA2838295653
ENST00000684231.1:c.25del