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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507308.1:p.[Leu83_Glu95delinsArgAsnArgSerPheSerValIleGlnThrGlyValGlnTrp;Ser97_Glu107delinsAspHisGlyLeuGlnGlnProArgThrProGly;Gln109_Ser112delinsLysGln]
CA2629343326
ENST00000682461.1:c.247_251del