ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741825791
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2681875
ClinVar RCV Id:
RCV003477167
RCV003500861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile232Phe
CA411107090
NM_001005735.2:c.694A>T