Allele Registry

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: EFTUD2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245283.1:p.Thr347Ser	CA399816129 NM_001258354.2:c.1040C>G CA399816133 NM_001258354.2:c.1039A>T