Allele Registry

Canonical Allele Identifier: PA2825569998

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000384712

ClinVar Variation:

316010

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107606.1:p.Arg554Gln	CA7520250 NM_001114134.2:c.1661G>A