ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825276515
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2183472
ClinVar RCV Id:
RCV002615529
RCV003368013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ser28Tyr
CA411091620
NM_001005735.2:c.83C>A