ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573099979
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Gly221Cys
CA391998099
NM_173087.2:c.661G>T