Canonical Allele Identifier: PA099344
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3900
ClinVar RCV Id: RCV000004106 RCV000336253
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg170Gln
CA252909
NM_000520.6:c.509G>A