Canonical Allele Identifier: PA2580464346
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2121171
ClinVar RCV Id: RCV003027923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Met423Val
CA381422727
NM_024649.5:c.1267A>G