Allele Registry

Canonical Allele Identifier: PA2827477309

Gene: CHEK2 HGNC NCBI

ClinVar Allele:

133507

ClinVar RCV:

RCV000115989

RCV000199599

RCV000219945

RCV000764373

ClinVar Variation:

128050

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Asn338Lys	CA288266 NM_001349956.2:c.1014C>A CA411096718 NM_001349956.2:c.1014C>G