Allele Registry

Canonical Allele Identifier: PA2580202572

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002715059

ClinVar Variation:

1954548

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala20Gly	CA393070702 NM_001318825.2:c.59C>G