Allele Registry

Canonical Allele Identifier: PA099419

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004105

RCV000210735

RCV000338961

RCV000520531

ClinVar Variation:

3899

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg499His	CA116501 NM_000520.6:c.1496G>A