ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111960
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8284
ClinVar RCV Id:
RCV000008779
RCV000024387
RCV000458893
RCV001787372
RCV003352748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Leu87Pro
CA119437
NM_001234.5:c.260T>C