Canonical Allele Identifier: PA2828284335
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3102
ClinVar RCV Id: RCV000003248 RCV000469417
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355059.1:p.Arg171His
CA252546
NM_001368130.1:c.512G>A