ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828591226
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_001362334.1:p.Ala549Val
CA3386908
NM_001375405.1:c.1646C>T