Allele Registry

Canonical Allele Identifier: PA916022709

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004137

RCV001778646

RCV002054413

ClinVar Variation:

3931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.His215Arg	CA252930 NM_001318825.2:c.644A>G