ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068374208
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Leu87His
CA2236346
NM_001234.5:c.260T>A