ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA154209
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117884
RCV000335039
RCV001705850
RCV002312203
ClinVar Variation:
129867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Gln270Arg
CA154208
NM_000531.6:c.809A>G