ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825018476
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
968561
ClinVar RCV Id:
RCV001243724
RCV001580576
RCV003145477
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg493Gln
CA7511367
NM_000070.3:c.1478G>A