ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654830
Gene: CEP120
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
439491
ClinVar RCV:
RCV000515139
ClinVar Variation:
446144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694955.2:p.Val194Ala
CA360893331
NM_153223.4:c.581T>C