Canonical Allele Identifier: PA658673529
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 462952
ClinVar RCV Id: RCV000551663 RCV001834775 RCV002528349 RCV003889922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Asn426Ser
CA6123687
NM_024649.5:c.1277A>G