ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249915
Gene: CEP83
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001365769
ClinVar Variation:
1056876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333390.1:p.Met352Val
CA6721772
NM_001346461.2:c.1054A>G