Canonical Allele Identifier: PA245460
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 197364
ClinVar RCV Id: RCV000178378 RCV001080709 RCV001120611 RCV003977463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149017.2:p.Ile70Val
CA245459
NM_033028.5:c.208A>G