Canonical Allele Identifier: PA294434
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142533
ClinVar RCV Id: RCV000131715 RCV000228975 RCV000587346 RCV000515410 RCV000855593 RCV001356488 RCV003492628 RCV004532574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009125.1:p.Arg406Cys
CA294433
NM_007194.4:c.1216C>T