ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224542
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083391
RCV000634846
ClinVar Variation:
97158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Glu98Lys
CA224541
NM_000531.6:c.292G>A