Allele Registry

Canonical Allele Identifier: PA916028193

Gene: ALG1 HGNC NCBI

ClinVar Variation Id: 4726

ClinVar RCV Id: RCV000004991

ClinVar Variation Id: 690326

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317433.1:p.Ser39Arg	CA277941 NM_001330504.2:c.117C>G CA394680410 NM_001330504.2:c.115A>C CA394680420 NM_001330504.2:c.117C>A