Allele Registry

Canonical Allele Identifier: PA916022775

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000513686

RCV000669111

RCV000855657

ClinVar Variation:

445397

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Tyr508Cys	CA7644665 NM_001318825.2:c.1523A>G