Canonical Allele Identifier: PA2825372380
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 383539
ClinVar RCV Id: RCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001028777.1:p.Glu748Val
CA4214639
NM_001033605.2:c.2243A>T