Allele Registry

Canonical Allele Identifier: PA1139688153

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004128

RCV000242608

RCV000279029

RCV000549043

ClinVar Variation:

3922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg258Trp	CA116507 NM_001318825.2:c.772C>T