ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112019
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31715
ClinVar RCV Id:
RCV000024399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Thr64Pro
CA215163
NM_001234.5:c.190A>C