Allele Registry

Canonical Allele Identifier: PA2573199268

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001948406

ClinVar Variation:

1430650

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ser51Thr	CA393070369 NM_001318825.2:c.152G>C