Allele Registry

Canonical Allele Identifier: PA916022723

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004108

RCV002226437

ClinVar Variation:

3902

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Gly261Asp	CA116502 NM_001318825.2:c.782G>A