ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322312
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_775110.1:p.Arg442Gln
CA341479
NM_173087.2:c.1325G>A