ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828056758
Gene: MOCS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534542
ClinVar RCV Id:
RCV000642133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001345459.1:p.Glu384Lys
CA137648082
NM_001358530.2:c.1150G>A