Canonical Allele Identifier: PA645469262
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402408
ClinVar RCV Id: RCV000455067 RCV000726642 RCV001081824 RCV001107785 RCV003902629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Leu206Val
CA6123433
NM_024649.5:c.616T>G