Allele Registry

Canonical Allele Identifier: PA239399

Gene: BBS7 HGNC NCBI

ClinVar RCV:

RCV000173926

RCV003221833

RCV003462274

ClinVar Variation:

193765

HGVS (amino-acid)	Matching Registered Transcripts
NP_789794.1:p.Arg346Gln	CA239398 NM_176824.3:c.1037G>A