Allele Registry

Canonical Allele Identifier: PA2828235566

Gene: ESPN HGNC NCBI

ClinVar RCV:

RCV000004671

RCV000757225

RCV002490311

ClinVar Variation:

4421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354402.1:p.Asp714Asn	CA116850 NM_001367473.1:c.2140G>A