ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825276646
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571406
ClinVar RCV Id:
RCV000692543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Thr65Ala
CA411090825
NM_001005735.2:c.193A>G