ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827473755
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213493
ClinVar RCV:
RCV000195519
RCV000570536
ClinVar Variation:
216643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Met1Val