Canonical Allele Identifier: PA645469290
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412285
ClinVar RCV Id: RCV000464697 RCV001809414
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Ala265Glu
CA16613498
NM_024649.5:c.794C>A