ClinGen Allele Registry
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Canonical Allele Identifier:
PA915954793
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133523
ClinVar RCV:
RCV000116007
RCV000198277
RCV000212476
RCV000515321
RCV000586195
RCV001357730
RCV001798353
RCV002291560
RCV003492503
RCV004529941
ClinVar Variation:
128066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Arg562Leu
CA288294
NM_001005735.2:c.1685G>T