Canonical Allele Identifier: PA095253
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 143161
ClinVar RCV Id: RCV000132689 RCV000246726 RCV000490439 RCV001085941
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149017.2:p.Met472Val
CA232857
NM_033028.5:c.1414A>G