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: ELP1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000363779.5:p.Leu716Phe	CA374423175 ENST00000374647.9:c.2148A>T CA374423177 ENST00000374647.9:c.2148A>C