ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827476364
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232111
ClinVar RCV Id:
RCV000217252
RCV000228310
RCV000522320
RCV002478800
RCV003137823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu254Ala
CA10167771
NM_001349956.2:c.761A>C