ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826337240
Gene: CEP57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230705.1:p.Gly346Ser
CA6239675
NM_001243776.2:c.1036G>A