ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826282936
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003058857
ClinVar Variation:
2142044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Ile17Thr
CA351661350
NM_001234.5:c.50T>C