Canonical Allele Identifier: PA2580184605
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1795520
ClinVar RCV Id: RCV002439330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Met92Leu
CA345373511
NM_001278343.2:c.274A>C
CA345373512
NM_001278343.2:c.274A>T