ClinGen Allele Registry
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Canonical Allele Identifier:
PA915954452
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_001005735.1:p.Arg449Cys
CA294433
NM_001005735.2:c.1345C>T