Allele Registry

Canonical Allele Identifier: PA2573096594

Gene: BBS2 HGNC NCBI

ClinVar RCV:

RCV000326249

RCV001094468

RCV002487413

ClinVar Variation:

319852

HGVS (amino-acid)	Matching Registered Transcripts
NP_114091.4:p.Arg632Cys	CA8065597 NM_031885.5:c.1894C>T