Canonical Allele Identifier: PA099408
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3915
ClinVar RCV Id: RCV000004121 RCV000169417 RCV002390089
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg499Cys
CA116504
NM_000520.6:c.1495C>T