ClinGen Allele Registry
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Canonical Allele Identifier:
PA658830893
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116033
RCV000212440
RCV000228767
RCV001192409
RCV001251038
RCV001355901
RCV001391209
RCV001579302
RCV003320458
RCV003483483
ClinVar Variation:
128089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Gly349Ala
CA288331
NM_001005735.2:c.1046G>C