Canonical Allele Identifier: PA2741983842
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3042727
ClinVar RCV Id: RCV003941641
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Asp58His
CA6123283
NM_024649.5:c.172G>C