Canonical Allele Identifier: PA248272
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 199192
ClinVar RCV Id: RCV000180708 RCV002054156 RCV002517766 RCV003407670
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_789794.1:p.Val289Ile
CA248271
NM_176824.3:c.865G>A