Canonical Allele Identifier: PA2826590596
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 573987
ClinVar RCV Id: RCV000695802 RCV002424660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Gly682Arg
CA1473512
NM_001278344.2:c.2044G>A
CA345392695
NM_001278344.2:c.2044G>C