ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826445123
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213121
RCV000219946
RCV000470899
RCV003320140
ClinVar Variation:
231943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Arg253Ser
CA10577632
NM_001257387.2:c.757C>A