ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074362
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000173976
RCV000201107
RCV003462275
ClinVar Variation:
193792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg493Trp
CA239448
NM_024344.1:c.1477C>T