Allele Registry

Canonical Allele Identifier: PA2825206363

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003092997

ClinVar Variation:

2168820

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Pro41Ser	CA393070507 NM_000520.6:c.121C>T