ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828058347
Gene: EPM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346986.1:p.Ala53Thr
CA314492
NM_001360057.2:c.157G>A
CA314531
NM_001360057.2:c.157_159delinsACG