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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.[Val381_Gln390delinsAspSerAlaArgHisAsnHisThrGly;Trp392Ala;Glu394_Asn399delinsGlyTyrSerSerGluLeu;Met401_Lys402del;Leu404_Ala410delinsGlyAlaGlyThrGlyHisGln;Phe412delinsArgLeu]
CA915946067
ENST00000683681.1:c.1142_1146del