ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477740
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128056
ClinVar RCV Id:
RCV000115996
RCV000200982
RCV000199565
RCV000587890
RCV000515311
RCV001269492
RCV001356041
RCV001294021
RCV001798350
RCV001147975
RCV004528803
RCV003492502
RCV003483481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Asp371Tyr
CA151527
NM_001349956.2:c.1111G>T