Allele Registry

Canonical Allele Identifier: PA2573096605

Gene: BBS2 HGNC NCBI

ClinVar RCV:

RCV000301991

RCV000710724

RCV000989606

RCV001081362

RCV001553955

RCV003888677

ClinVar Variation:

285261

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Ser70Asn	CA8066097 NM_031885.5:c.209G>A