Canonical Allele Identifier: PA2825325361
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1037355
ClinVar RCV Id: RCV001340492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018051.1:p.Asp74Glu
CA4035235
NM_001018041.2:c.222C>G
CA366188005
NM_001018041.2:c.222C>A