ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827474166
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639420
ClinVar RCV Id:
RCV000792203
RCV001010450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ser42del
CA638954364
NM_001349956.2:c.123_125del