Allele Registry

Canonical Allele Identifier: PA2827425568

Gene: BBS9 HGNC NCBI

ClinVar RCV:

RCV000174426

RCV000204910

RCV000515021

RCV001095289

ClinVar Variation:

194138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001334974.1:p.Ala305Val	CA200975 NM_001348045.3:c.914C>T