Canonical Allele Identifier: PA916022664
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3935
ClinVar RCV Id: RCV000004141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Leu39Arg
CA252933
NM_001318825.2:c.116T>G