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: EYA1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275503.1:p.Phe539Leu	CA371465944 NM_001288574.2:c.1617T>G CA371465945 NM_001288574.2:c.1617T>A CA371465950 NM_001288574.2:c.1615T>C