ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477330
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142533
ClinVar RCV Id:
RCV000131715
RCV000228975
RCV000587346
RCV000515410
RCV000855593
RCV001356488
RCV003492628
RCV004532574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Arg339Cys
CA294433
NM_001349956.2:c.1015C>T