ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452553
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281254
ClinVar RCV Id:
RCV000389096
RCV000711013
RCV003463741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg355Trp
CA7511239
NM_000070.3:c.1063C>T