Allele Registry

Canonical Allele Identifier: PA2825207276

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002766270

ClinVar Variation:

1979394

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ser417Cys	CA393060824 NM_000520.6:c.1250C>G