Canonical Allele Identifier: PA2580464335
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072095
ClinVar RCV Id: RCV002962644

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg359Cys
CA6123604
NM_024649.5:c.1075C>T