ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119457
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8293
ClinVar RCV Id:
RCV000008790
RCV000008791
RCV000024406
RCV000039801
RCV000168328
RCV000242756
RCV000769173
RCV000987088
RCV001144019
RCV003924817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Thr78Met
CA119455
NM_033337.3:c.233C>T