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
ENSP00000436073.1:p.Lys164_Ter165insCysAsnGlyGlyIleCysLysProThrGlnValGlnLeuHisGlnAlaAlaAspSerHisHisHisHisAspHisLeuGluGluGluProGly
CA381457541
ENST00000533644.5:c.495A>T
CA381457543
ENST00000533644.5:c.495A>C