ClinGen Allele Registry
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Canonical Allele Identifier:
PA095432
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213829
ClinVar RCV:
RCV000201199
RCV000516176
RCV002492925
RCV003474970
ClinVar Variation:
217150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg489Trp
CA347587
NM_000070.3:c.1465C>T