Canonical Allele Identifier: PA2826355593
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_001239607.1:p.Thr316Lys
CA7647054
NM_001252678.2:c.947C>A