Allele Registry

Canonical Allele Identifier: PA645473348

Gene: BBS12 HGNC NCBI

ClinVar RCV:

RCV000499698

RCV000625333

RCV000709681

RCV001145003

RCV001584212

RCV003424055

ClinVar Variation:

434490

HGVS (amino-acid)	Matching Registered Transcripts
NP_689831.2:p.Gln620Arg	CA3069524 NM_152618.3:c.1859A>G