ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112359
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116024
RCV000196561
RCV000212426
RCV000490304
RCV000588124
RCV001030689
RCV001149530
RCV001798358
RCV004529943
ClinVar Variation:
128081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Arg180Cys
CA288318
NM_007194.4:c.538C>T