Allele Registry

Canonical Allele Identifier: PA2828716102

Gene: BBS2 HGNC NCBI

ClinVar RCV:

RCV000171247

RCV001329456

ClinVar Variation:

191068

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364385.1:p.Asp170Asn	CA235951 NM_001377456.1:c.508G>A