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
ENSP00000508222.1:p.His3362Gln	CA347283042 ENST00000682859.1:c.10086C>A CA347283044 ENST00000682859.1:c.10086C>G