ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024702
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ser194Phe
CA10605165
NM_024344.1:c.581C>T