ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825018531
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
967031
ClinVar RCV Id:
RCV001241846
RCV001288905
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Gln518Arg
CA7511433
NM_000070.3:c.1553A>G