Allele Registry

Canonical Allele Identifier: PA658654907

Gene: BBS12 HGNC NCBI

ClinVar RCV:

RCV000512649

RCV001047657

RCV001073517

RCV001829459

RCV002282194

ClinVar Variation:

444641

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171478.1:p.Leu413Val	CA3069405 NM_001178007.2:c.1237C>G