ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827707932
Gene: CEP63
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340040.1:p.Arg229Leu
CA352423
NM_001353111.2:c.686_687delinsTT
CA2628454
NM_001353111.2:c.686G>T