ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111947
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23335
ClinVar RCV:
RCV000008794
RCV000024434
RCV001246513
ClinVar Variation:
8296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Leu79Arg
CA215227
NM_001234.5:c.236T>G