ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580383549
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2196163
ClinVar RCV Id:
RCV002651011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055771.4:p.Gln27Glu
CA6294310
NM_014956.5:c.79C>G