Allele Registry

Canonical Allele Identifier: PA2825569993

Gene: EPB42 HGNC NCBI

ClinVar Allele:

136386

ClinVar RCV:

RCV000258852

RCV001508383

ClinVar Variation:

132637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107606.1:p.Ala537Thr	CA345658 NM_001114134.2:c.1609G>A