Allele Registry

Canonical Allele Identifier: PA2580202613

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002616159

ClinVar Variation:

2187952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala64Thr	CA393070232 NM_001318825.2:c.190G>A