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: SMN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016865275.1:p.Ser230Arg
CA360096952
XM_017009786.1:c.688A>C
CA360096964
XM_017009786.1:c.690T>A
CA360096967
XM_017009786.1:c.690T>G