ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300425
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187113
ClinVar RCV Id:
RCV000166803
RCV000688703
RCV001531540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ala190Val
CA196768
NM_145862.2:c.569C>T