ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA288283
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009125.1:p.Thr476Met
NM_007194.4:c.1427C>T