ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826283337
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Ala134Val
CA2236364
NM_001234.5:c.401C>T