ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830324858
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195641
ClinVar RCV Id:
RCV000176251
RCV000386470
RCV003474930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775113.1:p.Asp115His
CA346865
NM_173090.1:c.343G>C