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
ENSP00000479279.1:p.Phe248Leu
CA360086943
ENST00000614240.4:c.742T>C
CA360086948
ENST00000614240.4:c.744T>A
CA360086949
ENST00000614240.4:c.744T>G