Canonical Allele Identifier: PA2828057449
Gene: MOCS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242559
ClinVar RCV Id: RCV000416188 RCV000987692 RCV001252080 RCV002518406 RCV001354730 RCV003907902
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001345463.1:p.Arg252Trp
CA053157
NM_001358534.2:c.754C>T
CA645372426
NM_001358534.2:c.[754C>T;592G>A]