Allele Registry

Canonical Allele Identifier: PA355162

Gene: BBS12 HGNC NCBI

ClinVar RCV:

RCV000203973

RCV000499807

RCV000668722

ClinVar Variation:

220303

HGVS (amino-acid)	Matching Registered Transcripts
NP_689831.2:p.Arg525His	CA348258 NM_152618.3:c.1574G>A