Allele Registry

Canonical Allele Identifier: PA2573199269

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001986109

ClinVar Variation:

1490873

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala53Ser	CA393070350 NM_001318825.2:c.157G>T