Allele Registry

Canonical Allele Identifier: PA261141

Gene: SMN1 HGNC NCBI

ClinVar Allele:

48111

ClinVar RCV:

RCV000032708

ClinVar Variation:

39512

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Tyr130Cys	CA261139 NM_000344.4:c.389A>G