Canonical Allele Identifier: PA2573286198
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417376
ClinVar RCV Id: RCV001938327

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gly62Arg
CA6123286
NM_024649.5:c.184G>C