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
XP_011517438.1:p.Leu716Phe	CA374423175 XM_011519136.2:c.2148A>T CA374423177 XM_011519136.2:c.2148A>C