Canonical Allele Identifier: PA2827051696
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 9148
ClinVar RCV Id: RCV000009719 RCV003228893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Ala341Glu
CA254672
NM_001320665.2:c.1022C>A