Canonical Allele Identifier: PA2573286225
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1401055
ClinVar RCV Id: RCV001934991 RCV002482780
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg67Cys
CA6123289
NM_024649.5:c.199C>T