Canonical Allele Identifier: PA250529
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5603
ClinVar RCV Id: RCV000005953 RCV000115994 RCV000197718 RCV000210180 RCV000212459 RCV000388223 RCV000515286 RCV000586482 RCV000778654 RCV001449813 RCV001354412 RCV003492287 RCV003333691 RCV004532295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009125.1:p.Ser428Phe
CA250528
NM_007194.4:c.1283C>T