Allele Registry

Canonical Allele Identifier: PA916022690

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004131

RCV002345229

ClinVar Variation:

3925

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg181Trp	CA252927 NM_001318825.2:c.541C>T