Canonical Allele Identifier: PA099510
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3902
ClinVar RCV Id: RCV000004108 RCV002226437
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly250Asp
CA116502
NM_000520.6:c.749G>A