ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916005171
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285113
ClinVar RCV Id:
RCV000284554
RCV001087069
RCV003967743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258862.1:p.Arg483Trp
CA6294759
NM_001271933.2:c.1447C>T