Allele Registry

Canonical Allele Identifier: PA2829999029

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009756

ClinVar Variation:

9178

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Ser230Gly	CA254694 NM_022874.2:c.688A>G