Allele Registry

Canonical Allele Identifier: PA099408

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004121

RCV000169417

RCV002390089

ClinVar Variation:

3915

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg499Cys	CA116504 NM_000520.6:c.1495C>T