ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825276589
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1022260
ClinVar RCV Id:
RCV001322147
RCV002395707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Gln51Glu
CA411091011
NM_001005735.2:c.151C>G