ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825276570
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
631296
ClinVar RCV Id:
RCV000777470
RCV001856146
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ser44Thr
CA411091212
NM_001005735.2:c.131G>C