Canonical Allele Identifier: PA2580464359
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2194205
ClinVar RCV Id: RCV002647356 RCV003889255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg512Cys
CA6123804
NM_024649.5:c.1534C>T