Allele Registry

Canonical Allele Identifier: PA916051391

Gene: BBS12 HGNC NCBI

ClinVar Allele:

78956

ClinVar RCV:

RCV000058869

ClinVar Variation:

68065

HGVS (amino-acid)	Matching Registered Transcripts
NP_689831.2:p.Pro108Arg	CA265992 NM_152618.3:c.323C>G