ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169760
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142917
ClinVar RCV Id:
RCV000132390
RCV000205294
RCV000216008
RCV004532582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Cys385Arg
CA169759
NM_007194.4:c.1153T>C