ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826225427
Gene: CAPN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185797.1:p.Arg347His
CA6093277
NM_001198868.2:c.1040G>A