Canonical Allele Identifier: PA2828716077
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028364
ClinVar RCV Id: RCV003889734

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Asn141Ile
CA395984404
NM_001377456.1:c.422A>T