ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915969017
Gene: CAPN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001739.3:p.Lys677Gln
CA1412331
NM_001748.5:c.2029A>C