This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489625.1:p.Leu51_Ter52insLeuAsnLysThrLysGlnAsnLysThrLysLysArgLysGluLysLysArgLysAsnLeuLysAsnPheLysAsnIleThrArgAspLysPheLeuValValIleValSerGlnTyrLysLysAlaValArg
CA333478
ENST00000636667.1:c.155A>T