ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953516
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000255649
RCV001358222
RCV002518758
ClinVar Variation:
265327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile200Ser
CA10588724
NM_001005735.2:c.599T>G