Canonical Allele Identifier: PA645469074
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305457
ClinVar RCV Id: RCV000268188 RCV001243569 RCV003409470
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gln64Glu
CA6123287
NM_024649.5:c.190C>G