Canonical Allele Identifier: PA2828284032
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1361125
ClinVar RCV Id: RCV001907369

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355058.1:p.Met63Ile
CA366191070
NM_001368129.2:c.189G>T
CA366191072
NM_001368129.2:c.189G>C
CA366191073
NM_001368129.2:c.189G>A