ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477128
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182435
ClinVar RCV Id:
RCV000160434
RCV000576132
RCV000704401
RCV000764374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Pro326Leu
CA299082
NM_001349956.2:c.977C>T