Canonical Allele Identifier: PA645468444
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375363
ClinVar RCV Id: RCV000416429

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly454Arg
CA16044198
NM_000520.6:c.1360G>C