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
ENSP00000370117.5:p.Met269Ile
CA360086511
ENST00000380741.8:c.807G>A
CA360086512
ENST00000380741.8:c.807G>T
CA360086513
ENST00000380741.8:c.807G>C