ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830303037
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ser471Phe
CA186920
NM_145862.2:c.1412C>T