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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508110.1:p.[Gly455_Ala457delinsGluArgLeuVal;Cys458_Met459insGlyGluAsn;Trp460_Gly461insThrThrGlnThrTrpSerPro;Glu462_Asn468delinsSerGluArgLysArgValGly;Val470Leu;Arg472_Leu473delinsThrPhe]
CA2739269539
ENST00000683681.1:c.1364del