Allele Registry

Canonical Allele Identifier: PA2829999075

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV001192808

ClinVar Variation:

928622

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Gly247Asp	CA360098107 NM_022874.2:c.740G>A