Canonical Allele Identifier: PA288283
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128060
ClinVar RCV Id: RCV000116001 RCV000210077 RCV000198554 RCV000317389 RCV000259876 RCV000499890 RCV000778653 RCV000212465 RCV001357877 RCV001564016 RCV001798351 RCV004528804 RCV003444200 RCV001572627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009125.1:p.Thr476Met
CA288282
NM_007194.4:c.1427C>T