ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826282934
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428683
ClinVar RCV Id:
RCV001936428
RCV003167313
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Asp16Asn
CA351661324
NM_001234.5:c.46G>A