Allele Registry

Canonical Allele Identifier: PA099510

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004108

RCV002226437

ClinVar Variation:

3902

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Gly250Asp	CA116502 NM_000520.6:c.749G>A