Canonical Allele Identifier: PA2825540666
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040716
ClinVar RCV Id: RCV001344405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001094.1:p.Phe884Leu
CA345392615
NM_001103.4:c.2650T>C
CA345392628
NM_001103.4:c.2652C>A
CA345392630
NM_001103.4:c.2652C>G