ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074323
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280038
ClinVar RCV Id:
RCV000274198
RCV000291465
RCV003463735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg448Cys
CA7511324
NM_024344.1:c.1342C>T