Canonical Allele Identifier: PA1139757742
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 944920
ClinVar RCV Id: RCV001215430 RCV001278006
ClinVar Variation Id: 2011275
ClinVar RCV Id: RCV002851237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg341Trp
CA6123590
NM_024649.5:c.1021C>T
CA2580084546
NM_024649.5:c.1020_1021delinsGT