ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954240
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128044
ClinVar RCV Id:
RCV000115982
RCV000197709
RCV000677873
RCV000212449
RCV001527478
RCV001355387
RCV001030625
RCV003448266
RCV002477284
RCV004529939
RCV000656834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.His414Tyr
CA288254
NM_001005735.2:c.1240C>T