ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA288332
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128089
ClinVar RCV Id:
RCV000116033
RCV000228767
RCV000212440
RCV001192409
RCV001355901
RCV001251038
RCV001391209
RCV001579302
RCV003320458
RCV003483483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Gly306Ala
CA288331
NM_007194.4:c.917G>C