Canonical Allele Identifier: PA2825325467
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205428
ClinVar RCV Id: RCV000726476 RCV001088121 RCV003977496 RCV002362981
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018051.1:p.Arg207His
CA314488
NM_001018041.2:c.620G>A