ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827864628
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341437.1:p.Gly541Glu
CA391353013
NM_001354508.2:c.1622G>A