ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081919878
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg572Leu
CA7511472
NM_000070.3:c.1715G>T