Allele Registry

Canonical Allele Identifier: PA3057319510

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV004691018

ClinVar Variation:

3336438

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Glu63Lys	CA7645092 NM_001318825.2:c.187G>A