Canonical Allele Identifier: PA2828716491
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4578
ClinVar RCV Id: RCV000004840 RCV000190986 RCV000380902 RCV000589221 RCV001002874 RCV001073916 RCV001268711 RCV002490315 RCV002512776
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Arg632Pro
CA060272
NM_001377456.1:c.1895G>C