ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827258
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665341
ClinVar Variation:
550563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Lys598del
CA617608109
NM_000070.3:c.1793_1795del