Canonical Allele Identifier: PA2573295760
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375048
ClinVar RCV Id: RCV001883248

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149017.2:p.Ala2Val
CA272613050
NM_033028.5:c.5C>T