Canonical Allele Identifier: PA916010073
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 463209
ClinVar RCV Id: RCV000549699 RCV003139762 RCV001193478 RCV002456101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Gly111Arg
CA1472762
NM_001278343.2:c.331G>A
CA345373644
NM_001278343.2:c.331G>C