Canonical Allele Identifier: PA2573193746
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1428050
ClinVar RCV Id: RCV001964779

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Ile686del
CA1473333
NM_001278343.2:c.2057_2059del