ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827474388
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213236
RCV000318548
RCV000475066
RCV001420839
ClinVar Variation:
233790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Tyr72Cys
CA10168058
NM_001349956.2:c.215A>G