ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825186136
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2629679
ClinVar RCV Id:
RCV003414315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Asn199Ile
CA412725489
NM_000531.6:c.596A>T