ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425189
Gene: CEP43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3142952
ClinVar RCV Id:
RCV004436337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919410.1:p.Leu297Val
CA4095589
NM_194429.3:c.889C>G