Allele Registry

Canonical Allele Identifier: PA645425070

Gene: CCDC40 HGNC NCBI

ClinVar RCV:

RCV000252684

RCV000861600

RCV001122216

ClinVar Variation:

260957

HGVS (amino-acid)	Matching Registered Transcripts
NP_060420.2:p.Glu743Lys	CA8814135 NM_017950.4:c.2227G>A