ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580487993
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715073
ClinVar RCV Id:
RCV002299372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Lys20Gln
CA351661386
NM_033337.3:c.58A>C