Canonical Allele Identifier: PA2826470128
Gene: ACTN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3141964
ClinVar RCV Id: RCV004431300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245300.2:p.Val598Leu
CA6124802
NM_001258371.3:c.1792G>T
CA381446701
NM_001258371.3:c.1792G>C