Allele Registry

Canonical Allele Identifier: PA2580202906

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002766270

ClinVar Variation:

1979394

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ser428Cys	CA393060824 NM_001318825.2:c.1283C>G