Allele Registry

Canonical Allele Identifier: PA2580203015

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003066651

RCV003066652

RCV003481372

ClinVar Variation:

2139666

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala507Gly	CA7644666 NM_001318825.2:c.1520C>G