Canonical Allele Identifier: PA099499
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3892
ClinVar RCV Id: RCV000004096 RCV002512734 RCV003480020
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Glu482Lys
CA252906
NM_000520.6:c.1444G>A