ClinGen Allele Registry
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Canonical Allele Identifier:
PA658654831
Gene: CEP120
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
439495
ClinVar RCV:
RCV000515145
RCV001268429
ClinVar Variation:
446148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694955.2:p.Ala549Val
CA3386908
NM_153223.4:c.1646C>T