Canonical Allele Identifier: PA336281
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 216822
ClinVar RCV Id: RCV000196254 RCV000665030 RCV003165477 RCV003897430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Arg487Gly
CA336279
NM_152618.3:c.1459A>G