Allele Registry

Canonical Allele Identifier: PA2826355354

Gene: BBS4 HGNC NCBI

ClinVar RCV:

RCV000020938

RCV000132688

RCV000152842

RCV000709673

RCV001094309

ClinVar Variation:

21734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001239607.1:p.Ile182Thr	CA179792 NM_001252678.2:c.545T>C