ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528283
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694955.2:p.Asp942Asn
CA360893986
NM_153223.4:c.2824G>A