Canonical Allele Identifier: PA236418
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191306
ClinVar RCV Id: RCV000171498 RCV000256439 RCV003984827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689597.1:p.Gly178Arg
CA236417
NM_152384.3:c.532G>A
CA349164947
NM_152384.3:c.532G>C