Allele Registry

Canonical Allele Identifier: PA916069011

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009753

RCV000785814

ClinVar Variation:

9176

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Gly95Arg	CA254690 NM_022874.2:c.283G>C CA360093339 NM_022874.2:c.283G>A