ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573095659
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg448Leu
CA391999624
NM_024344.1:c.1343G>T