ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825017797
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492032
ClinVar RCV Id:
RCV001989087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Gly221Ser
CA391998101
NM_000070.3:c.661G>A