Allele Registry

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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

JSON-LD

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