ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830324324
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775112.1:p.Arg104Trp
CA10604167
NM_173089.2:c.310C>T