ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828284357
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575074
ClinVar RCV Id:
RCV000697182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355059.1:p.Pro211Thr
CA4035133
NM_001368130.1:c.631C>A