Canonical Allele Identifier: PA2573096581
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_114091.4:p.Arg403Cys
CA8065809
NM_031885.5:c.1207C>T