Allele Registry

Canonical Allele Identifier: PA2580202608

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002298033

ClinVar Variation:

1720246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Val60Phe	CA393070276 NM_001318825.2:c.178G>T