ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830303385
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Arg494Cys
CA294024
NM_145862.2:c.1480C>T