ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483219
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409257
ClinVar RCV Id:
RCV000470414
RCV001545712
RCV002329057
RCV003323547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Val151Ile
CA2236372
NM_033337.3:c.451G>A