ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830028149
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_079456.2:p.Arg46His
CA2628269
NM_025180.5:c.137G>A