ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916066075
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg60Trp
CA347588
NM_173088.2:c.178C>T