Canonical Allele Identifier: PA2573095827
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336570
ClinVar RCV Id: RCV001817525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Thr480Arg
CA381424051
NM_024649.5:c.1439C>G