ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499243224
Gene: ACTN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245300.2:p.Phe456Leu
CA6124611
NM_001258371.3:c.1366T>C
CA6124612
NM_001258371.3:c.1368C>A
CA381443881
NM_001258371.3:c.1368C>G