ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826283042
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
850682
ClinVar RCV Id:
RCV001054902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val44Met
CA351663144
NM_001234.5:c.130G>A