ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300423
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
825893
ClinVar RCV Id:
RCV001024404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ala190Lys
CA915952734
NM_145862.2:c.568_569delinsAA