ClinGen Allele Registry
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Canonical Allele Identifier:
PA111888
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23333
ClinVar RCV:
RCV000008792
RCV000024430
ClinVar Variation:
8294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Ala85Thr
CA215218
NM_001234.5:c.253G>A