ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452737
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284465
ClinVar RCV Id:
RCV000591859
RCV000725457
RCV001814146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg546Cys
CA7511450
NM_000070.3:c.1636C>T