ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105290
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205434
ClinVar RCV Id:
RCV000187395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Gln293Leu
CA314502
NM_005670.4:c.878A>T