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
ENSP00000478155.1:p.Asp380Glu	CA347261871 ENST00000484298.5:c.1140C>G CA347261872 ENST00000484298.5:c.1140C>A