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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000456489.1:p.[Gly57_Leu72delinsSerAlaAlaGlnSerSerThrArgProSerSerAlaIleValThrCys;Gly74del;Gly76_Arg80delinsValProGlyLeuGly;Tyr82Val;Gly85_Lys86delinsSerGlnGly]
CA2186761163
ENST00000567159.5:c.168_169insTC