ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139687551
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946817
ClinVar RCV Id:
RCV001217757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Leu694Arg
CA392001520
NM_000070.3:c.2081T>G