Canonical Allele Identifier: PA260180
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35753
ClinVar RCV Id: RCV000029404 RCV001074387 RCV001835636 RCV001228905 RCV001725934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Glu224Lys
CA260179
NM_024649.5:c.670G>A