Allele Registry

Canonical Allele Identifier: PA2825283788

Gene: ALG8 HGNC NCBI

ClinVar RCV:

RCV001908065

RCV002506931

ClinVar Variation:

1372613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007028.1:p.Ala258Thr	CA382116833 NM_001007027.2:c.772G>A