Allele Registry

Canonical Allele Identifier: PA109579

Gene: BBS12 HGNC NCBI

ClinVar RCV:

RCV000493625

RCV000669934

RCV001075674

RCV001089798

RCV002518825

ClinVar Variation:

281596

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171478.1:p.Arg674Cys	CA3069551 NM_001178007.2:c.2020C>T