Canonical Allele Identifier: PA916010371
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 575734
ClinVar RCV Id: RCV000698039 RCV002458266
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Ala847Val
CA1473487
NM_001278343.2:c.2540C>T