ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102283
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11010
ClinVar RCV Id:
RCV000011757
RCV000083414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Arg129His
CA224568
NM_000531.6:c.386G>A