Allele Registry

Canonical Allele Identifier: PA2829888658

Gene: BBS7 HGNC NCBI

ClinVar Variation Id: 166738

HGVS (amino-acid)	Matching Registered Transcripts
NP_060660.2:p.Cys243Tyr	CA233521 NM_018190.4:c.728G>A