Allele Registry

Canonical Allele Identifier: PA093859

Gene: ESPN HGNC NCBI

ClinVar RCV:

RCV000004671

RCV000757225

RCV002490311

ClinVar Variation:

4421

HGVS (amino-acid)	Matching Registered Transcripts
NP_113663.2:p.Asp744Asn	CA116850 NM_031475.3:c.2230G>A