ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826283040
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001071606
ClinVar Variation:
864417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val44Ala
CA351663147
NM_001234.5:c.131T>C