Allele Registry

Canonical Allele Identifier: PA094653

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009757

RCV002472926

ClinVar Variation:

9179

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Ile116Phe	CA254696 NM_000344.4:c.346A>T