ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826027375
Gene: CEP120
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446148
ClinVar RCV Id:
RCV000515145
RCV001268429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159698.1:p.Ala523Val
CA3386908
NM_001166226.2:c.1568C>T