Canonical Allele Identifier: PA2826590116
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2950752
ClinVar RCV Id: RCV003810062

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265273.1:p.Ser455Arg
CA345387406
NM_001278344.2:c.1363A>C
CA345387412
NM_001278344.2:c.1365C>A
CA345387413
NM_001278344.2:c.1365C>G