Allele Registry

Canonical Allele Identifier: PA1139688516

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000706870

ClinVar Variation:

582729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Thr369Met	CA7644829 NM_001318825.2:c.1106C>T