Allele Registry

Canonical Allele Identifier: PA099571

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004137

RCV001778646

RCV002054413

ClinVar Variation:

3931

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.His204Arg	CA252930 NM_000520.6:c.611A>G