ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954666
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Arg517His
CA230684
NM_001005735.2:c.1550G>A