Canonical Allele Identifier: PA915953717
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128081
ClinVar RCV Id: RCV000116024 RCV000212426 RCV000196561 RCV000588124 RCV001149530 RCV000490304 RCV001798358 RCV001030689 RCV004529943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005735.1:p.Arg223Cys
CA288318
NM_001005735.2:c.667C>T