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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508222.1:p.[Glu3397Thr;Met3399_Asp3409delinsValSerSerSerSerLeuSer;Thr3411_Thr3413delinsHisGlyGln;Tyr3415_Ser3420del;Ser3422_Leu3427del]
CA2580611329
ENST00000682859.1:c.10189_10190del