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: SMN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000424282.1:p.Asp188Glu
CA360086311
ENST00000511812.5:c.564T>A
CA360086313
ENST00000511812.5:c.564T>G