Canonical Allele Identifier: PA916022711
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3908
ClinVar RCV Id: RCV000004114
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ser221Phe
CA252918
NM_001318825.2:c.662C>T