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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000455114.1:p.[Gln66_Leu72delinsSerAlaIleValThrCys;Gly74del;Gly76_Arg80delinsValProGlyLeuGly;Tyr82Val;Gly85_Leu95delinsSerGlnValGlyArgThrLysLeuThrLeuSerSer]
CA2697549200
ENST00000566304.5:c.196del