ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829769125
Gene: CEP57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055494.2:p.Glu122Ala
CA382421084
NM_014679.5:c.365A>C