ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139738950
Gene: CEP104
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055519.1:p.Ile530Val
CA551567
NM_014704.3:c.1588A>G