Allele Registry

Canonical Allele Identifier: PA2829999028

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009736

RCV000713373

ClinVar Variation:

9165

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Ser230Ile	CA254675 NM_022874.2:c.689G>T