ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954117
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160431
RCV000205583
RCV000221549
ClinVar Variation:
182432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Asp390Asn
CA299076
NM_001005735.2:c.1168G>A