Canonical Allele Identifier: PA2825325442
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 654471
ClinVar RCV Id: RCV000810440

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018051.1:p.Trp165Cys
CA4035147
NM_001018041.2:c.495G>T
CA366191564
NM_001018041.2:c.495G>C