ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478478
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152159
ClinVar RCV:
RCV000131571
RCV000203702
RCV000586318
RCV001175355
RCV004528859
ClinVar Variation:
142445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Asp430Asn
CA168377
NM_001349956.2:c.1288G>A