Canonical Allele Identifier: PA916022759
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3942
ClinVar RCV Id: RCV000004148
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Leu462Val
CA252936
NM_001318825.2:c.1384C>G