Canonical Allele Identifier: PA658744255
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493094
ClinVar RCV Id: RCV001199647 RCV000585181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Ala14Gly
CA381453346
NM_024649.5:c.41C>G