ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323848
Gene: CAPN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.His245Tyr
CA7511815
NM_173088.2:c.733C>T