ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830018047
Gene: CAPN10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075571.2:p.Thr339Met
CA2205706
NM_023083.4:c.1016C>T