Allele Registry

Canonical Allele Identifier: PA100895

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000119052

RCV001508386

RCV003488394

ClinVar Variation:

132635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107606.1:p.Arg287Cys	CA345655 NM_001114134.2:c.859C>T