Canonical Allele Identifier: PA645469379
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 434479
ClinVar RCV Id: RCV000500220 RCV000726690 RCV001274039 RCV001086879 RCV003979884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gly394Asp
CA6123669
NM_024649.5:c.1181G>A