Canonical Allele Identifier: PA1139757468
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 990061
ClinVar RCV Id: RCV001367515 RCV001277998 RCV003887980 RCV003898259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Val55Met
CA6123281
NM_024649.5:c.163G>A