Canonical Allele Identifier: PA2827051487
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 196570
ClinVar RCV Id: RCV000177393 RCV000425800 RCV000709674 RCV001085083 RCV001119683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Lys46Arg
CA202441
NM_001320665.2:c.137A>G