Canonical Allele Identifier: PA645463423
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 373591
ClinVar RCV Id: RCV000413271

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005661.1:p.Phe145Leu
CA16042530
NM_005670.4:c.435C>A
CA366188300
NM_005670.4:c.435C>G
CA366188311
NM_005670.4:c.433T>C