ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828056943
Gene: MOCS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242558
ClinVar RCV Id:
RCV000415797
RCV000714706
RCV001354513
RCV001252317
RCV002518405
RCV003907901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001345460.1:p.Glu198Lys
CA053174
NM_001358531.2:c.592G>A