Allele Registry

Canonical Allele Identifier: PA916068998

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009752

ClinVar Variation:

9175

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Asp30Asn	CA254688 NM_022874.2:c.88G>A