Canonical Allele Identifier: PA2828716224
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4573
ClinVar RCV Id: RCV000004835 RCV000675099 RCV001226053 RCV001257834 RCV003887853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Arg315Trp
CA116928
NM_001377456.1:c.943C>T