ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119430
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008772
RCV000008774
RCV000024382
RCV001384920
RCV002381245
ClinVar Variation:
8281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Ala46Thr
CA119428
NM_033337.3:c.136G>A