ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828284374
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531807
ClinVar RCV Id:
RCV000638321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355059.1:p.Met236Val
CA149184177
NM_001368130.1:c.706A>G