ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065864
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Gln123Lys
CA10605522
NM_173087.2:c.367C>A