Allele Registry

Canonical Allele Identifier: PA658812172

Gene: BBS1 HGNC NCBI

ClinVar Allele:

526449

ClinVar RCV:

RCV000638357

RCV001267196

RCV002483815

RCV003313119

ClinVar Variation:

531824

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Ala447Thr	CA6123700 NM_024649.5:c.1339G>A