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: BBS7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011530382.1:p.Gln248His
CA358065668
XM_011532080.3:c.744A>T
CA358065670
XM_011532080.3:c.744A>C