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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000457521.2:p.Pro360_Ter361insCysAlaGluGlySerGlyAspTrpTrpArgGlyLeuTyrValGlyArgIleCysGlyGlnHisLysProGlyProGlnAlaLeuAlaGlnSerArgGlyCysCysArgLysAlaValGluGlnGlnValAspIle
CA393059369
ENST00000567027.6:c.1083A>C
CA393059374
ENST00000567027.6:c.1083A>T