ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954641
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
236599
ClinVar RCV:
RCV000223247
RCV000471573
ClinVar Variation:
232934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Val511Ile
CA10581028
NM_001005735.2:c.1531G>A