ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953454
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187519
ClinVar RCV Id:
RCV000167254
RCV000700163
RCV001753573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Glu192Gly
CA197860
NM_001005735.2:c.575A>G