Canonical Allele Identifier: PA2826132250
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036725
ClinVar RCV Id: RCV001339773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Asp383Gly
CA358224498
NM_001178007.2:c.1148A>G