Allele Registry

Canonical Allele Identifier: PA2826845567

Gene: SMN1 HGNC NCBI

ClinVar Allele:

24219

ClinVar RCV:

RCV000009758

ClinVar Variation:

9180

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Gln136Glu	CA254698 NM_001297715.1:c.406C>G