Canonical Allele Identifier: PA2828284207
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205424
ClinVar RCV Id: RCV000638309 RCV000426321 RCV002317094 RCV003607255
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355059.1:p.Gly50Arg
CA314480
NM_001368130.1:c.148G>A
CA366188211
NM_001368130.1:c.148G>C