Canonical Allele Identifier: PA2580464304
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100455
ClinVar RCV Id: RCV003033493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gly60Ala
CA381455637
NM_024649.5:c.179G>C