Allele Registry

Canonical Allele Identifier: PA2573100333

Gene: BBS7 HGNC NCBI

ClinVar Variation Id: 1315298

HGVS (amino-acid)	Matching Registered Transcripts
NP_789794.1:p.Ala217Val	CA3064443 NM_176824.3:c.650C>T