ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452685
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286477
ClinVar RCV Id:
RCV000267747
RCV000669446
RCV002494858
RCV003463765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg493Gly
CA10605479
NM_000070.3:c.1477C>G