Allele Registry

Canonical Allele Identifier: PA645373646

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000267602

RCV000889759

ClinVar Variation:

316019

HGVS (amino-acid)	Matching Registered Transcripts
NP_000110.2:p.Gly372Asp	CA7520423 NM_000119.3:c.1115G>A