Allele Registry

Canonical Allele Identifier: PA2499248189

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001301615

ClinVar Variation:

1004843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg19Trp	CA393070716 NM_001318825.2:c.55C>T