Allele Registry

Canonical Allele Identifier: PA2826845550

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009752

ClinVar Variation:

9175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Asp30Asn	CA254688 NM_001297715.1:c.88G>A