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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507320.1:p.[Tyr355_Gln357delinsThrSerArgArg;Thr358_Tyr359insProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGlu;Pro360delinsValAspAsnThrAsnLeuVal]
CA2575781186
ENST00000684125.1:c.1063del