ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112062
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val44Glu
CA215190
NM_001234.5:c.131T>A