ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830324558
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775113.1:p.Asp42His
CA10606740
NM_173090.1:c.124G>C