ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483188
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000362812
ClinVar Variation:
279734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Cys116Arg
CA10602894
NM_033337.3:c.346T>C