ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826283059
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000024424
ClinVar Variation:
31738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Ala46Glu
CA215204
NM_001234.5:c.137C>A