Allele Registry

Canonical Allele Identifier: PA645469290

Gene: BBS1 HGNC NCBI

ClinVar Allele:

398448

ClinVar RCV:

RCV000464697

RCV001809414

ClinVar Variation:

412285

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Ala265Glu	CA16613498 NM_024649.5:c.794C>A