ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224572
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
103074
ClinVar RCV:
RCV000083416
ClinVar Variation:
97182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Arg129Leu
CA224571
NM_000531.6:c.386G>T