Canonical Allele Identifier: PA2499290650
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003083
ClinVar RCV Id: RCV001299587 RCV001835425 RCV003416168
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg356His
CA6123602
NM_024649.5:c.1067G>A