ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645407310
Gene: CEP164
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055771.4:p.Leu1001Val
CA6295299
NM_014956.5:c.3001C>G