ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224590
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
103084
ClinVar RCV:
RCV000083427
RCV000990785
ClinVar Variation:
97192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Asp136Val
CA224589
NM_000531.6:c.407A>T