Allele Registry

Canonical Allele Identifier: PA2826845565

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000032708

ClinVar Variation:

39512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Tyr130Cys	CA261139 NM_001297715.1:c.389A>G