Allele Registry

Canonical Allele Identifier: PA2827423684

Gene: BBS9 HGNC NCBI

ClinVar Allele:

192793

ClinVar RCV:

RCV000243461

RCV000723782

RCV001085388

RCV001165277

ClinVar Variation:

195632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001334970.1:p.Ser788Phe	CA242114 NM_001348041.4:c.2363C>T