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: BBS12 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438273.1:p.Leu323del
CA358224108
ENST00000542236.5:c.968T>A
CA358224110
ENST00000542236.5:c.968T>G