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: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000377563.2:p.Glu314Asp
CA381422925
ENST00000393994.4:c.942G>C
CA381422927
ENST00000393994.4:c.942G>T