ClinGen Allele Registry
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Canonical Allele Identifier:
PA117631
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20630
ClinVar RCV:
RCV000005936
RCV000116018
RCV000120555
RCV000144596
RCV000210131
RCV000212410
RCV000626718
RCV001358111
RCV001535774
RCV001797993
RCV002054420
RCV002254675
RCV003224091
RCV003333685
RCV003447470
RCV004528085
ClinVar Variation:
5591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ile157Thr
CA117630
NM_007194.4:c.470T>C