ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699796
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949319
ClinVar RCV Id:
RCV001220755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Leu332Ile
CA411099443
NM_007194.4:c.994C>A