ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573096000
Gene: CEP135
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079285.2:p.Arg48Gln
CA2927476
NM_025009.5:c.143G>A