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
ENSP00000436195.1:p.His49Gln
CA381456348
ENST00000524458.5:c.147C>A
CA381456353
ENST00000524458.5:c.147C>G