Allele Registry

Canonical Allele Identifier: PA265993

Gene: BBS12 HGNC NCBI

ClinVar RCV:

RCV000058869

ClinVar Variation:

68065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171478.1:p.Pro108Arg	CA265992 NM_001178007.2:c.323C>G