ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224577
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083420
ClinVar Variation:
97185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Leu131dup
CA224576
NM_000531.6:c.390_392dup