Allele Registry

Canonical Allele Identifier: PA915954669

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

480028

ClinVar RCV:

RCV000570223

RCV000698621

ClinVar Variation:

486833

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Thr519Lys	CA411094243 NM_001005735.2:c.1556C>A