Allele Registry

Canonical Allele Identifier: PA2825569956

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000267602

RCV000889759

ClinVar Variation:

316019

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107606.1:p.Gly342Asp	CA7520423 NM_001114134.2:c.1025G>A