ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826283186
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279733
ClinVar RCV Id:
RCV000457990
RCV000726760
RCV000987089
RCV000769174
RCV002252075
RCV002446508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val82Ile
CA2236342
NM_001234.5:c.244G>A