Allele Registry

Canonical Allele Identifier: PA916069027

Gene: SMN1 HGNC NCBI

ClinVar Allele:

48111

ClinVar RCV:

RCV000032708

ClinVar Variation:

39512

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Tyr130Cys	CA261139 NM_022874.2:c.389A>G