Allele Registry

Canonical Allele Identifier: PA2827421523

Gene: BBS9 HGNC NCBI

ClinVar RCV:

RCV000243461

RCV000723782

RCV001085388

RCV001165277

ClinVar Variation:

195632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001334966.1:p.Ser605Phe	CA242114 NM_001348037.3:c.1814C>T