Canonical Allele Identifier: PA2827051797
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 462959
ClinVar RCV Id: RCV000537692 RCV002060311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Thr465Lys
CA7647054
NM_001320665.2:c.1394C>A