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
ENSP00000370083.4:p.Met278Ile
CA360097381
ENST00000380707.9:c.834G>A
CA360097384
ENST00000380707.9:c.834G>C
CA360097387
ENST00000380707.9:c.834G>T