Allele Registry

Canonical Allele Identifier: PA916022680

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000203235

ClinVar Variation:

218335

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Glu125Lys	CA10575831 NM_001318825.2:c.373G>A