ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959192
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000990787
ClinVar Variation:
803977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ser164Leu
CA412723694
NM_000531.6:c.491C>T