ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830324266
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128570
ClinVar RCV Id:
RCV000116542
RCV000489478
RCV001814062
RCV003474720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775112.1:p.Arg83Gln
CA345536
NM_173089.2:c.248G>A