Allele Registry

Canonical Allele Identifier: PA2580202598

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003092997

ClinVar Variation:

2168820

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Pro41Ser	CA393070507 NM_001318825.2:c.121C>T