Allele Registry

Canonical Allele Identifier: PA094682

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009736

RCV000713373

ClinVar Variation:

9165

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Ser262Ile	CA254675 NM_000344.4:c.785G>T