ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828279408
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_001354971.1:p.Met173Val
CA6721772
NM_001368042.1:c.517A>G