ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828590498
Gene: CILK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2065781
ClinVar RCV Id:
RCV002958730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362328.1:p.Pro251Ser
CA364470364
NM_001375399.1:c.751C>T