Allele Registry

Canonical Allele Identifier: PA2573286198

Gene: BBS1 HGNC NCBI

ClinVar RCV:

RCV001938327

ClinVar Variation:

1417376

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Gly62Arg	CA6123286 NM_024649.5:c.184G>C