ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA235847
Gene: CEP57
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191025
ClinVar RCV Id:
RCV000171200
RCV001331874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055494.2:p.Arg30Pro
CA235845
NM_014679.5:c.89G>C