Allele Registry

Canonical Allele Identifier: PA2580202601

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002586276

ClinVar Variation:

1903347

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Val50Ile	CA393070387 NM_001318825.2:c.148G>A