ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478207
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133516
ClinVar RCV:
RCV000115999
RCV000206044
RCV000234795
RCV000588723
RCV000764370
RCV002222396
RCV003493445
ClinVar Variation:
128059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Arg407Cys
CA288280
NM_001349956.2:c.1219C>T