ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112072
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31708
ClinVar RCV Id:
RCV000024391
RCV000706810
RCV004017265
RCV001171082
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val57Met
CA215150
NM_001234.5:c.169G>A