ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829700618
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1370917
ClinVar RCV Id:
RCV001899453
RCV003355592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Leu417Val
CA411096544
NM_007194.4:c.1249C>G