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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507004.1:p.[Val381delinsGlyThrProGluGln;Lys382_Val383insAlaLeu;Pro384delinsIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsn;Ser386_Arg387delinsValPro;Trp390Ter]
CA915946067
ENST00000683884.1:c.1142_1146del