Canonical Allele Identifier: PA645473382
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 281596
ClinVar RCV Id: RCV000493625 RCV000669934 RCV001075674 RCV001089798 RCV002518825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Arg674Cys
CA3069551
NM_152618.3:c.2020C>T