ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074341
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501440
ClinVar RCV Id:
RCV000592929
RCV000727349
RCV003235305
RCV003471960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg461Cys
CA391999721
NM_024344.1:c.1381C>T