ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825276605
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_001005735.1:p.Ser55Phe
CA10168064
NM_001005735.2:c.164C>T