ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499234701
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1056503
ClinVar RCV Id:
RCV003325567
RCV001365348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Thr432Ile
CA411096833
NM_001005735.2:c.1295C>T