ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294125
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141337
ClinVar RCV Id:
RCV000129822
RCV000206197
RCV000235158
RCV001149531
RCV003320460
RCV002492498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Arg145Gln
CA294124
NM_007194.4:c.434G>A