ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA288263
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128048
ClinVar RCV Id:
RCV000115986
RCV000212453
RCV000228584
RCV001356701
RCV003226200
RCV003483480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Glu394Lys
CA288262
NM_007194.4:c.1180G>A