ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074361
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17622
ClinVar RCV Id:
RCV000724646
RCV002222356
RCV002490391
RCV003473110
RCV000019189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg490Gln
CA341479
NM_024344.1:c.1469G>A