Allele Registry

Canonical Allele Identifier: PA916018909

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009756

ClinVar Variation:

9178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Ser262Gly	CA254694 NM_001297715.1:c.784A>G