Canonical Allele Identifier: PA2828716301
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 319857
ClinVar RCV Id: RCV000665273 RCV001850699 RCV003488537 RCV004544576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Arg403Cys
CA8065809
NM_001377456.1:c.1207C>T