ClinGen Allele Registry
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Canonical Allele Identifier:
PA915954843
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130825
RCV000415925
RCV000781307
RCV001030618
RCV001084280
ClinVar Variation:
142032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Thr576Ala
CA167185
NM_001005735.2:c.1726A>G