Canonical Allele Identifier: PA2741849444
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942385
ClinVar RCV Id: RCV003805599

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265272.1:p.Asn99Lys
CA345373564
NM_001278343.2:c.297T>A
CA345373565
NM_001278343.2:c.297T>G