ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477057
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
470017
ClinVar RCV:
RCV000555442
RCV000565631
ClinVar Variation:
460788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Thr320Ala
CA10167717
NM_001349956.2:c.958A>G