Allele Registry

Canonical Allele Identifier: PA2580452629

Gene: ALG8 HGNC NCBI

ClinVar Allele:

2341380

ClinVar RCV:

RCV002951809

ClinVar Variation:

2346358

HGVS (amino-acid)	Matching Registered Transcripts
NP_076984.2:p.Thr47Ser	CA6203573 NM_024079.5:c.139A>T CA382099759 NM_024079.5:c.140C>G