Canonical Allele Identifier: PA2828058373
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 265122
ClinVar RCV Id: RCV000255450 RCV000524852 RCV001801687 RCV002317793
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Glu70Gln
CA4035236
NM_001360057.2:c.208G>C