Canonical Allele Identifier: PA2580184745
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783562
ClinVar RCV Id: RCV002423434 RCV003100972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Met657Leu
CA1473292
NM_001278343.2:c.1969A>T
CA345387120
NM_001278343.2:c.1969A>C