ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580432688
Gene: CEP126
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004141838
ClinVar Variation:
2289833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065853.3:p.Val681Ile
CA382452987
NM_020802.3:c.2041G>A