ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826283026
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000472187
RCV000598341
RCV001255494
RCV002411476
RCV002496771
ClinVar Variation:
409255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Glu42Ala
CA2236324
NM_001234.5:c.125A>C