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: ALMS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000507862.1:p.Arg2487Ser	CA347265928 ENST00000682801.1:c.7461A>T CA347265931 ENST00000682801.1:c.7461A>C