ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826282932
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162827
ClinVar RCV Id:
RCV000150234
RCV000619202
RCV000770193
RCV000727218
RCV001084128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val14Ile
CA175387
NM_001234.5:c.40G>A