ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323822
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128570
ClinVar RCV Id:
RCV000116542
RCV000489478
RCV001814062
RCV003474720
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg236Gln
CA345536
NM_173088.2:c.707G>A