ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829612773
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
802281
ClinVar RCV Id:
RCV000987798
RCV002549688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Thr187Ile
CA366191421
NM_005670.4:c.560C>T