Canonical Allele Identifier: PA2827051786
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 143161
ClinVar RCV Id: RCV000132689 RCV000246726 RCV000490439 RCV001085941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Met449Val
CA232857
NM_001320665.2:c.1345A>G