Canonical Allele Identifier: PA2499244916
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284674
ClinVar RCV Id: RCV001700610

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Val115Leu
CA345373667
NM_001278343.2:c.343G>T
CA345373668
NM_001278343.2:c.343G>C