Canonical Allele Identifier: PA916047120
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 196413
ClinVar RCV Id: RCV000177234 RCV001252481 RCV001083180 RCV002314628 RCV003907592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355060.1:p.Ala89Val
CA243361
NM_001368131.1:c.266C>T