Canonical Allele Identifier: PA2828058432
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 167038
ClinVar RCV Id: RCV000153197 RCV000232652 RCV000626888 RCV001704109 RCV003927479 RCV002345488
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Ile126Val
CA295611
NM_001360057.2:c.376A>G