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
NP_075015.1:p.Leu228Phe
CA360086387
NM_022877.2:c.684G>C
CA360086388
NM_022877.2:c.684G>T