Allele Registry

Canonical Allele Identifier: PA916022649

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000505693

RCV000757370

RCV000781461

RCV001252516

RCV003902807

ClinVar Variation:

438810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ser3Thr	CA7645132 NM_001318825.2:c.8G>C