ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580210617
Gene: CEP63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1905196
ClinVar RCV Id:
RCV002592881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340047.1:p.Arg55His
CA2628269
NM_001353118.1:c.164G>A