Allele Registry

Canonical Allele Identifier: PA2826845552

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009745

ClinVar Variation:

9172

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Asp44Val	CA254683 NM_001297715.1:c.131A>T