ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043859
Gene: CEP57
HGNC
NCBI
Linked Data
ClinVar Variation Id:
539588
ClinVar RCV Id:
RCV000649345
RCV002530531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350533.1:p.Ser5Phe
CA6239364
NM_001363604.2:c.14C>T