Canonical Allele Identifier: PA645469234
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412286
ClinVar RCV Id: RCV000472989 RCV002525625 RCV001828486 RCV003889901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg146Gln
CA6123344
NM_024649.5:c.437G>A