ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024585
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000440617
RCV000675143
RCV002282100
RCV003475901
ClinVar Variation:
283107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ile113Thr
CA7510921
NM_024344.1:c.338T>C