ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425185
Gene: CEP43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
786767
ClinVar RCV Id:
RCV000968880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919410.1:p.Ala257Pro
CA4095547
NM_194429.3:c.769G>C