ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139747382
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553852
ClinVar RCV Id:
RCV000669378
RCV003140065
RCV003235338
RCV003472115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Glu467del
CA7511349
NM_024344.1:c.1401_1403del