Canonical Allele Identifier: PA2580464316
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1716590
ClinVar RCV Id: RCV002295906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Met155Ile
CA381457354
NM_024649.5:c.465G>A
CA381457355
NM_024649.5:c.465G>C
CA381457356
NM_024649.5:c.465G>T