ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299095
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_009125.1:p.Ser505Thr
CA299094
NM_007194.4:c.1513T>A