Allele Registry

Canonical Allele Identifier: PA2499290646

Gene: BBS1 HGNC NCBI

ClinVar RCV:

RCV001388588

ClinVar Variation:

1075093

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Arg277Lys	CA381459651 NM_024649.5:c.830G>A