ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074357
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217150
ClinVar RCV Id:
RCV000201199
RCV000516176
RCV002492925
RCV003474970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg489Trp
CA347587
NM_024344.1:c.1465C>T