ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830303441
Gene: CHEK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Gly500Asp
CA339590
NM_145862.2:c.1499G>A