ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121292
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011741
RCV000079082
RCV000268490
RCV001725114
RCV002311511
ClinVar Variation:
10994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Lys46Arg
CA121291
NM_000531.6:c.137A>G