ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139671132
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001089877
ClinVar Variation:
870333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Val339Met
CA412728026
NM_000531.6:c.1015G>A