ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826282900
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1479480
ClinVar RCV Id:
RCV002009814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Ala3Thr
CA351661138
NM_001234.5:c.7G>A