ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499294856
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001372540
ClinVar Variation:
1062784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Val67Ile
CA351663277
NM_033337.3:c.199G>A