Canonical Allele Identifier: PA658654907
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 444641
ClinVar RCV Id: RCV000512649 RCV001073517 RCV001047657 RCV001829459 RCV002282194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Leu413Val
CA3069405
NM_001178007.2:c.1237C>G