Canonical Allele Identifier: PA2828058370
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 665213
ClinVar RCV Id: RCV000823447

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Glu69Gly
CA366188041
NM_001360057.2:c.206A>G
CA915944444
NM_001360057.2:c.206_207delinsGC