Canonical Allele Identifier: PA916022771
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3892
ClinVar RCV Id: RCV000004096 RCV002512734 RCV003480020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Glu493Lys
CA252906
NM_001318825.2:c.1477G>A