Canonical Allele Identifier: PA111927
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8289
ClinVar RCV Id: RCV000008786 RCV001212042
ClinVar Variation Id: 457133
ClinVar RCV Id: RCV000539792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001225.1:p.Asn33Lys
CA119446
NM_001234.5:c.99C>G
CA351661574
NM_001234.5:c.99C>A