Canonical Allele Identifier: PA2573096595
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4578
ClinVar RCV Id: RCV000004840 RCV000190986 RCV000380902 RCV000589221 RCV001002874 RCV001073916 RCV001268711 RCV002490315 RCV002512776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Arg632Pro
CA060272
NM_031885.5:c.1895G>C