ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827475429
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142448
ClinVar RCV Id:
RCV000131577
RCV000199653
RCV000212433
RCV000586622
RCV000791342
RCV003389239
RCV003153427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Leu169Pro
CA294400
NM_001349956.2:c.506T>C