ClinGen Allele Registry
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Canonical Allele Identifier:
PA111933
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001225.1:p.Asp28Glu
NM_001234.5:c.84C>A
NM_001234.5:c.84C>G