ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829612836
Gene: EPM2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001213399
ClinVar Variation:
943249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Arg241Gly
CA366190483
NM_005670.4:c.721C>G