Allele Registry

Canonical Allele Identifier: PA1139680311

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV001192808

ClinVar Variation:

928622

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Gly279Asp	CA360098107 NM_000344.4:c.836G>A