Allele Registry

Canonical Allele Identifier: PA916018910

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009736

RCV000713373

ClinVar Variation:

9165

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Ser262Ile	CA254675 NM_001297715.1:c.785G>T