Allele Registry

Canonical Allele Identifier: PA645468384

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000416443

ClinVar Variation:

375357

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Gly269Arg	CA16044204 NM_000520.6:c.805G>C