Canonical Allele Identifier: PA112039
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8293
ClinVar RCV Id: RCV000008790 RCV000008791 RCV000024406 RCV000039801 RCV000168328 RCV000242756 RCV000769173 RCV000987088 RCV001144019 RCV003924817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001225.1:p.Thr78Met
CA119455
NM_001234.5:c.233C>T