ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915984807
Gene: ACTN3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001245300.2:p.Arg620Ter
NM_001258371.3:c.1858C>T