Canonical Allele Identifier: PA112002
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8291
ClinVar RCV Id: RCV000008788 RCV000024432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001225.1:p.Ser141Arg
CA215221
NM_001234.5:c.423C>G
CA351663730
NM_001234.5:c.421A>C
CA351663736
NM_001234.5:c.423C>A