ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658744930
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496026
ClinVar RCV Id:
RCV000590045
RCV001089878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ser203Phe
CA412725627
NM_000531.6:c.608C>T