ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477964
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
232123
ClinVar RCV:
RCV000215992
RCV000223343
RCV000535584
RCV000780185
RCV001030621
RCV001355832
ClinVar Variation:
232008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ala386Pro
CA10167674
NM_001349956.2:c.1156G>C