ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103157
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97237
ClinVar RCV Id:
RCV000083477
RCV001262181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Thr178Met
CA224668
NM_000531.6:c.533C>T