ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322703
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Asp615His
CA10606740
NM_173087.2:c.1843G>C