ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830303475
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116008
RCV000212482
RCV000412260
RCV001818284
ClinVar Variation:
128067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Arg506His
CA288296
NM_145862.2:c.1517G>A