Allele Registry

Canonical Allele Identifier: PA1139757471

Gene: BBS1 HGNC NCBI

ClinVar RCV:

RCV001212839

RCV001819901

RCV001828697

ClinVar Variation:

942786

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Leu59Val	CA6123284 NM_024649.5:c.175C>G