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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.[Thr21_Trp26delinsArgArgProSerGly;Gln28_Gln31delinsGlyLeuArg;Asp34_Gln45delinsLysProProThrSerAlaThrSerPheThrArgThrThr;Gln47_Val50delinsAsnSerSerThrMet;Ser52dup]
CA16041742
ENST00000566304.5:c.60_61dup