Allele Registry

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Canonical Allele Identifier: PA2829993310

Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281011

ClinVar RCV Id: RCV000375518 RCV000644989 RCV003144189

ClinVar Variation Id: 990249

ClinVar RCV Id: RCV001278232

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Gly685Arg	CA7511704 NM_024344.1:c.2053G>A CA392001498 NM_024344.1:c.2053G>C