ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825017290
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002881476
ClinVar Variation:
2032843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Met1Ile