Canonical Allele Identifier: PA2828058419
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3100
ClinVar RCV Id: RCV000003246 RCV001851604
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Arg108Cys
CA252543
NM_001360057.2:c.322C>T