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
ENSP00000424799.1:p.Thr274Ser
CA360086546
ENST00000506734.5:c.820A>T
CA360086548
ENST00000506734.5:c.821C>G