Canonical Allele Identifier: PA2826590498
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191600
ClinVar RCV Id: RCV000171869 RCV000685248 RCV000768748 RCV001532886 RCV002426817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Arg643His
CA237027
NM_001278344.2:c.1928G>A