ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119436
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8283
ClinVar RCV Id:
RCV000008777
RCV000008778
RCV000023083
RCV000408119
RCV000527324
RCV002490340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Arg27Gln
CA119434
NM_033337.3:c.80G>A