Allele Registry

Canonical Allele Identifier: PA105706

Gene: BBS7 HGNC NCBI

ClinVar RCV:

RCV000003152

RCV000456825

RCV002482819

ClinVar Variation:

3016

HGVS (amino-acid)	Matching Registered Transcripts
NP_789794.1:p.Thr211Ile	CA252534 NM_176824.3:c.632C>T