ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827477113
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ala325Val
CA164560
NM_001349956.2:c.974C>T