Canonical Allele Identifier: PA2828284580
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205434
ClinVar RCV Id: RCV000187395
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355061.1:p.Gln139Leu
CA314502
NM_001368132.1:c.416A>T