Allele Registry

Canonical Allele Identifier: PA658654611

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000513686

RCV000669111

RCV000855657

ClinVar Variation:

445397

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Tyr497Cys	CA7644665 NM_000520.6:c.1490A>G