ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099706
Gene: CEP57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350533.1:p.Pro224Ser
CA6239585
NM_001363604.2:c.670C>T