ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215143
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8277
ClinVar RCV Id:
RCV000008767
RCV000024380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Thr64_Thr66del
CA215140
NM_001234.5:c.189_197del