Allele Registry

Canonical Allele Identifier: PA109548

Gene: BBS12 HGNC NCBI

ClinVar Allele:

16189

ClinVar RCV:

RCV000001209

RCV001042718

RCV001073577

ClinVar Variation:

1150

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171478.1:p.Ala289Pro	CA251711 NM_001178007.2:c.865G>C