ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112053
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008793
RCV000024433
ClinVar Variation:
8295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val14Leu
CA215224
NM_001234.5:c.40G>C