ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825186178
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003009009
RCV004526215
ClinVar Variation:
2083011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Ala208Ser
CA10385897
NM_000531.6:c.622G>T