ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215186
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31730
ClinVar RCV Id:
RCV000024415
RCV000234023
RCV000770194
RCV000560643
RCV004018672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Glu34Lys
CA215184
NM_033337.3:c.100G>A