ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993371
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000324676
RCV000525491
ClinVar Variation:
290334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Asp701His
CA10606740
NM_024344.1:c.2101G>C