Allele Registry

Canonical Allele Identifier: PA1139757859

Gene: BBS1 HGNC NCBI

ClinVar RCV:

RCV001278008

RCV001760318

RCV002537783

RCV003928808

ClinVar Variation:

990067

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Thr438Arg	CA6123695 NM_024649.5:c.1313C>G