Canonical Allele Identifier: PA891863922
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 592062
ClinVar RCV Id: RCV000723248 RCV001317094 RCV001825443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gly57Arg
CA381455564
NM_024649.5:c.169G>A
CA381455572
NM_024649.5:c.169G>C