ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478825
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142032
ClinVar RCV Id:
RCV000130825
RCV000415925
RCV001030618
RCV001084280
RCV000781307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Thr466Ala
CA167185
NM_001349956.2:c.1396A>G