ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826337861
Gene: CEP57
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538321
ClinVar Variation:
472260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230706.1:p.Pro251Ser
CA6239585
NM_001243777.2:c.751C>T