Canonical Allele Identifier: PA2828716059
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 261981
ClinVar RCV Id: RCV000241605 RCV000261972 RCV000576482 RCV000709672 RCV001526785 RCV001706364 RCV003888665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Ile123Val
CA8066062
NM_001377456.1:c.367A>G