Allele Registry

Canonical Allele Identifier: PA2825206395

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001948406

ClinVar Variation:

1430650

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ser51Thr	CA393070369 NM_000520.6:c.152G>C