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.Gln284His
CA360086979
ENST00000380741.8:c.852A>C
CA360086980
ENST00000380741.8:c.852A>T