ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452555
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430022
ClinVar RCV Id:
RCV000493163
RCV000667745
RCV001731719
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg357Gln
CA269840817
NM_000070.3:c.1070G>A