Allele Registry

Canonical Allele Identifier: PA916022753

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004107

ClinVar Variation:

3901

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Trp431Cys	CA252910 NM_001318825.2:c.1293G>C CA393060764 NM_001318825.2:c.1293G>T