Canonical Allele Identifier: PA2826132240
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347498
ClinVar RCV Id: RCV000365366 RCV000424012 RCV001094779 RCV001700076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Arg368His
CA3069375
NM_001178007.2:c.1103G>A