ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074326
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000201031
RCV000710092
RCV003387802
RCV003474969
ClinVar Variation:
217149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg448His
CA347482
NM_024344.1:c.1343G>A