Canonical Allele Identifier: PA658812172
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531824
ClinVar RCV Id: RCV000638357 RCV001267196 RCV002483815 RCV003313119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Ala447Thr
CA6123700
NM_024649.5:c.1339G>A