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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507227.1:p.[Tyr355delinsThrSerArgArgGluGluGlyArgArg;Gln357_Thr358insProAsp;Thr358_Ter359insIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGlu]
CA2575781186
ENST00000684415.1:c.1063del