Allele Registry

Canonical Allele Identifier: PA913198930

Gene: BBS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Ser375Arg	CA381422136 NM_024649.5:c.1123A>C CA381422147 NM_024649.5:c.1125C>A CA381422148 NM_024649.5:c.1125C>G