ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478205
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132423
ClinVar RCV:
RCV000114766
RCV000116000
RCV000206096
RCV003387763
RCV003492448
ClinVar Variation:
126910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Arg407His
CA230684
NM_001349956.2:c.1220G>A