ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825277187
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131287
RCV000212441
RCV000231753
RCV002271417
RCV002483267
ClinVar Variation:
142266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Asp354Asn
CA294339
NM_001005735.2:c.1060G>A