ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476465
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236191
ClinVar RCV Id:
RCV000225005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ile85Thr
CA10581559
NM_000531.6:c.254T>C