Allele Registry

Canonical Allele Identifier: PA658665521

Gene: BBS4 HGNC NCBI

ClinVar Allele:

464496

ClinVar RCV:

RCV000537692

RCV002060311

ClinVar Variation:

462959

HGVS (amino-acid)	Matching Registered Transcripts
NP_149017.2:p.Thr488Lys	CA7647054 NM_033028.5:c.1463C>A