ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829684172
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_008976.1:p.Leu317Val
CA4095589
NM_007045.4:c.949C>G