Allele Registry

Canonical Allele Identifier: PA2825372402

Gene: BBS9 HGNC NCBI

ClinVar Allele:

192793

ClinVar RCV:

RCV000243461

RCV000723782

RCV001085388

RCV001165277

ClinVar Variation:

195632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001028777.1:p.Ser783Phe	CA242114 NM_001033605.2:c.2348C>T