Canonical Allele Identifier: PA2828058584
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 462933
ClinVar RCV Id: RCV000556253 RCV001563435
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346993.1:p.Val111Leu
CA366190434
NM_001360064.2:c.331G>T
CA366190435
NM_001360064.2:c.331G>C