Allele Registry

Canonical Allele Identifier: PA116508

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004128

RCV000242608

RCV000279029

RCV000549043

ClinVar Variation:

3922

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg247Trp	CA116507 NM_000520.6:c.739C>T