Allele Registry

Canonical Allele Identifier: PA345656

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000119052

RCV001508386

RCV003488394

ClinVar Variation:

132635

HGVS (amino-acid)	Matching Registered Transcripts
NP_000110.2:p.Arg317Cys	CA345655 NM_000119.3:c.949C>T