ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826283078
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1489175
ClinVar RCV Id:
RCV001978237
RCV003490996
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Thr51Ile
CA351663181
NM_001234.5:c.152C>T