Allele Registry

Canonical Allele Identifier: PA184324

Gene: CBL HGNC NCBI

ClinVar RCV:

RCV000156176

RCV000466595

RCV001104890

RCV001813404

RCV002390364

RCV003422048

ClinVar Variation:

179387

HGVS (amino-acid)	Matching Registered Transcripts
NP_005179.2:p.Asp549Glu	CA184322 NM_005188.3:c.1647C>A CA382919473 NM_005188.3:c.1647C>G