Allele Registry

Canonical Allele Identifier: PA179793

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000020938

RCV000132688

RCV000152842

RCV000709673

RCV001094309

ClinVar Variation:

21734

HGVS (amino-acid)	Matching Registered Transcripts
NP_149017.2:p.Ile354Thr	CA179792 NM_033028.5:c.1061T>C