ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095389
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283991
ClinVar RCV Id:
RCV000269452
RCV000725372
RCV001814145
RCV003475903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg440Trp
CA7511318
NM_000070.3:c.1318C>T