Canonical Allele Identifier: PA2828716493
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 319852
ClinVar RCV Id: RCV000326249 RCV001094468 RCV002487413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Arg632Cys
CA8065597
NM_001377456.1:c.1894C>T