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
ENSP00000305857.5:p.Gln136His
CA360094396
ENST00000351205.8:c.408A>C
CA360094398
ENST00000351205.8:c.408A>T