Allele Registry

Canonical Allele Identifier: PA3057530623

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV005205610

ClinVar Variation:

3730787

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ser221Cys	CA393063571 NM_001318825.2:c.662C>G