ClinGen Allele Registry
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Canonical Allele Identifier:
PA915954748
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182441
ClinVar RCV Id:
RCV000160441
RCV000212471
RCV000476991
RCV001030619
RCV001193688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ser548Thr
CA299094
NM_001005735.2:c.1642T>A