Allele Registry

Canonical Allele Identifier: PA2829999065

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV003489437

ClinVar Variation:

2690717

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Gly243Ser	CA120725213 NM_022874.2:c.727G>A