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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506867.1:p.[Trp78Cys;Arg80_Tyr82delinsSer;Thr84_Leu86delinsProHisArg;Leu88Phe;Phe90_Ser95delinsValIleGlnThr;Ile98_Asn103delinsGlnTrpCysAspHisGly;Glu105_Asp108delinsGlnGlnProArgThrProGly]
CA2695220960
ENST00000683579.1:c.234_235del