ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139741548
Gene: CEP57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350533.1:p.Glu95Ala
CA382421084
NM_001363604.2:c.284A>C