ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827709318
Gene: CEP63
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002592881
ClinVar Variation:
1905196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340051.1:p.Arg46His
CA2628269
NM_001353122.1:c.137G>A