ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573171209
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002050843
RCV003331217
ClinVar Variation:
1348491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Leu43Ile
CA327925152
NM_000531.6:c.127C>A