Canonical Allele Identifier: PA1139757545
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951302
ClinVar RCV Id: RCV001223178 RCV001828778 RCV003246771 RCV003398965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Pro81Leu
CA381456153
NM_024649.5:c.242C>T