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
ENSP00000504355.1:p.Asp199Glu
CA390191190
ENST00000679147.1:c.597T>G
CA390191191
ENST00000679147.1:c.597T>A