Allele Registry

Canonical Allele Identifier: PA345660

Gene: EPB42 HGNC NCBI

ClinVar RCV:

RCV000258852

RCV001508383

ClinVar Variation:

132637

HGVS (amino-acid)	Matching Registered Transcripts
NP_000110.2:p.Ala567Thr	CA345658 NM_000119.3:c.1699G>A