Allele Registry

Canonical Allele Identifier: PA2580202603

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002947463

ClinVar Variation:

2056288

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala53Thr	CA393070353 NM_001318825.2:c.157G>A