ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074290
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282173
ClinVar RCV Id:
RCV000440492
RCV000820741
RCV001775111
RCV002480004
RCV003475891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Glu435Lys
CA7511313
NM_024344.1:c.1303G>A