Canonical Allele Identifier: PA099419
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3899
ClinVar RCV Id: RCV000004105 RCV000210735 RCV000338961 RCV000520531
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg499His
CA116501
NM_000520.6:c.1496G>A