ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827707554
Gene: CEP63
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340037.1:p.Ser651Leu
CA152316
NM_001353108.3:c.1952C>T