Allele Registry

Canonical Allele Identifier: PA658805360

Gene: BBS7 HGNC NCBI

ClinVar RCV:

RCV000762107

RCV001083688

RCV001144798

ClinVar Variation:

531839

HGVS (amino-acid)	Matching Registered Transcripts
NP_789794.1:p.Asp412Gly	CA3064285 NM_176824.3:c.1235A>G