ClinGen Allele Registry
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Canonical Allele Identifier:
PA916066089
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17614
ClinVar RCV Id:
RCV000726518
RCV001198825
RCV003323362
RCV000019180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg60Gln
CA341470
NM_173088.2:c.179G>A