ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476196
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
823069
ClinVar RCV Id:
RCV001018963
RCV001873314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Gly239Val
CA411100152
NM_001349956.2:c.716G>T