Allele Registry

Canonical Allele Identifier: PA916022763

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000202369

ClinVar Variation:

218134

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Glu473Val	CA279889 NM_001318825.2:c.1418A>T