ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827707451
Gene: CEP63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434745
ClinVar RCV Id:
RCV000501571
RCV000948660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340037.1:p.Arg191Gln
CA2628433
NM_001353108.3:c.572G>A