Canonical Allele Identifier: PA336280
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 216822
ClinVar RCV Id: RCV000196254 RCV000665030 RCV003165477 RCV003897430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Arg487Gly
CA336279
NM_001178007.2:c.1459A>G