ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825540770
Gene: ACTN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001095.2:p.Phe413Leu
CA6124611
NM_001104.4:c.1237T>C
CA6124612
NM_001104.4:c.1239C>A
CA381443881
NM_001104.4:c.1239C>G