Allele Registry

Canonical Allele Identifier: PA2825207478

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003066651

RCV003066652

RCV003481372

ClinVar Variation:

2139666

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala496Gly	CA7644666 NM_000520.6:c.1487C>G