ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830301944
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1056503
ClinVar RCV Id:
RCV003325567
RCV001365348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Thr360Ile
CA411096833
NM_145862.2:c.1079C>T