ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211085
Gene: CEP152
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158268
ClinVar RCV Id:
RCV000145641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181927.1:p.Arg1634Cys
CA211083
NM_001194998.2:c.4900C>T