ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830301819
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115982
RCV000197709
RCV000212449
RCV000656834
RCV000677873
RCV001030625
RCV001355387
RCV001527478
RCV002477284
RCV003448266
RCV004529939
ClinVar Variation:
128044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.His342Tyr
CA288254
NM_145862.2:c.1024C>T