ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573175211
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1355070
ClinVar RCV Id:
RCV001887958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Leu375His
CA411099424
NM_001005735.2:c.1124T>A