ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828058804
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205423
ClinVar RCV Id:
RCV000187383
RCV001218707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001347000.1:p.Arg187His
CA314478
NM_001360071.2:c.560G>A