Canonical Allele Identifier: PA2829888642
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315298
ClinVar RCV Id: RCV002540594 RCV001774548 RCV002488603
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Ala217Val
CA3064443
NM_018190.4:c.650C>T