Allele Registry

Canonical Allele Identifier: PA916022731

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004122

RCV002281692

RCV003502016

ClinVar Variation:

3916

2736239

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Trp340Ter