ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826444874
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2708439
ClinVar RCV Id:
RCV003501267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Gly193Ala
CA411096591
NM_001257387.2:c.578G>C