Canonical Allele Identifier: PA2828284034
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1421919
ClinVar RCV Id: RCV001919279 RCV004044136
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355058.1:p.Leu72Val
CA4035125
NM_001368129.2:c.214T>G