Canonical Allele Identifier: PA658830052
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550360
ClinVar RCV Id: RCV000665087

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Glu354Gly
CA381462544
NM_024649.5:c.1061A>G