Allele Registry

Canonical Allele Identifier: PA913196394

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000785799

ClinVar Variation:

634934

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Gly275Asp	CA360097300 NM_000344.4:c.824G>A