Allele Registry

Canonical Allele Identifier: PA645373667

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000384712

ClinVar Variation:

316010

HGVS (amino-acid)	Matching Registered Transcripts
NP_000110.2:p.Arg584Gln	CA7520250 NM_000119.3:c.1751G>A