Allele Registry

Canonical Allele Identifier: PA916028193

Gene: ALG1 HGNC NCBI

ClinVar RCV:

RCV000004991

RCV000851238

RCV001869290

ClinVar Variation:

4726

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