ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114375
Gene: CILK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640
ClinVar RCV Id:
RCV000000672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057597.2:p.Arg272Gln
CA114374
NM_016513.5:c.815G>A