Canonical Allele Identifier: PA916022761
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3934
ClinVar RCV Id: RCV000004140
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly465Ser
CA252932
NM_001318825.2:c.1393G>A