Allele Registry

Canonical Allele Identifier: PA915954447

Gene: CHEK2 HGNC NCBI

ClinVar RCV:

RCV000115989

RCV000199599

RCV000219945

RCV000764373

ClinVar Variation:

128050

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Asn448Lys	CA288266 NM_001005735.2:c.1344C>A CA411096718 NM_001005735.2:c.1344C>G