ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496760
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410069
ClinVar RCV Id:
RCV000759772
RCV000466798
RCV000574842
RCV001821281
RCV003325201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ser55Phe
CA10168064
NM_007194.4:c.164C>T