Canonical Allele Identifier: PA2573309137
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1518093
ClinVar Variation Id: 1705662
ClinVar RCV Id: RCV002283976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_789794.1:p.Gly214Arg
CA358066059
NM_176824.3:c.640G>C
CA358066067
NM_176824.3:c.640G>A