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
ENSP00000507421.1:p.Lys3548Asn	CA347286968 ENST00000684548.1:c.10644A>C CA347286970 ENST00000684548.1:c.10644A>T