Canonical Allele Identifier: PA2826283149
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8279
ClinVar RCV Id: RCV000008769 RCV000024381 RCV000150236 RCV000171752 RCV000249612 RCV000477819 RCV000769171 RCV001084478 RCV001144018 RCV000987087 RCV003952349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001225.1:p.Cys72Trp
CA175393
NM_001234.5:c.216C>G