Canonical Allele Identifier: PA916069011
Gene: SMN1 HGNC NCBI

Linked Data


Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_075012.1:p.Gly95Arg
NM_022874.2:c.283G>A

NM_022874.2:c.283G>C