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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_Ter361insSerAlaGluGlySerGlyAspTrpTrpArgGlyLeuTyrValGlyArgIleCysGlyGlnHisLysProGlyProGlnAlaLeuAlaGlnSerArgGlyCysCysArgLysAlaValGluGlnGlnValAspIle
CA393059380
ENST00000567027.6:c.1082G>C