ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128041
Gene: ACTN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001095.2:p.Arg577Ter
NM_001104.4:c.1729C>T