Canonical Allele Identifier: PA2828716066
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209043
ClinVar RCV Id: RCV000190988 RCV000675071 RCV001002875 RCV001049931 RCV001074319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Pro134Arg
CA204970
NM_001377456.1:c.401C>G