This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ACTN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123476.1:p.Asp200Glu
CA390191177
NM_001130004.2:c.600T>G
CA390191178
NM_001130004.2:c.600T>A