ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294011
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140938
ClinVar RCV Id:
RCV000129213
RCV000206213
RCV000212468
RCV000590757
RCV001798435
RCV002478384
RCV004528849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Pro484Leu
CA294010
NM_007194.4:c.1451C>T