Allele Registry

Canonical Allele Identifier: PA2827051685

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000020938

RCV000132688

RCV000152842

RCV000709673

RCV001094309

ClinVar Variation:

21734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307594.1:p.Ile331Thr	CA179792 NM_001320665.2:c.992T>C