ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993072
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290547
ClinVar RCV Id:
RCV000370228
RCV003517180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Phe569Ser
CA10606813
NM_024344.1:c.1706T>C