ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826445379
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Ala319Thr
CA10581020
NM_001257387.2:c.955G>A