Allele Registry

Canonical Allele Identifier: PA2829999101

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009738

ClinVar Variation:

9167

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Gly247Val	CA254679 NM_022874.2:c.740G>T