ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573260189
Gene: CEP57
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055494.2:p.Ala3Val
CA382412938
NM_014679.5:c.8C>T