Allele Registry

Canonical Allele Identifier: PA2825206256

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001301615

ClinVar Variation:

1004843

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg19Trp	CA393070716 NM_000520.6:c.55C>T