Canonical Allele Identifier: PA2828058697
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 802281

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001347000.1:p.Thr49Ile
CA366191421
NM_001360071.2:c.146C>T