ClinGen Allele Registry
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Canonical Allele Identifier:
PA299075
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
181105
ClinVar RCV:
RCV000160430
RCV000203780
RCV000656833
RCV001535789
RCV001844056
ClinVar Variation:
182431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Arg346His
CA299074
NM_007194.4:c.1037G>A