Allele Registry

Canonical Allele Identifier: PA645373651

Gene: EPB42 HGNC NCBI

ClinVar Allele:

255218

ClinVar RCV:

RCV000249237

RCV000296485

RCV000899320

ClinVar Variation:

255148

HGVS (amino-acid)	Matching Registered Transcripts
NP_000110.2:p.Arg457Cys	CA7520373 NM_000119.3:c.1369C>T