Allele Registry

Canonical Allele Identifier: PA2825283840

Gene: ALG8 HGNC NCBI

ClinVar RCV:

RCV000823145

RCV002487852

ClinVar Variation:

664953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007028.1:p.Ile431Met	CA224903696 NM_001007027.2:c.1293C>G