Canonical Allele Identifier: PA916022760
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375363
ClinVar RCV Id: RCV000416429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly465Arg
CA16044198
NM_001318825.2:c.1393G>C