Allele Registry

Canonical Allele Identifier: PA916022759

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004148

ClinVar Variation:

3942

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Leu462Val	CA252936 NM_001318825.2:c.1384C>G