Allele Registry

Canonical Allele Identifier: PA2825206443

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002616159

ClinVar Variation:

2187952

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala64Thr	CA393070232 NM_000520.6:c.190G>A