ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672110
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954192
ClinVar RCV Id:
RCV001226608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ala233Gly
CA411107066
NM_001005735.2:c.698C>G