Allele Registry

Canonical Allele Identifier: PA094560

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009754

RCV000009755

RCV000785810

ClinVar Variation:

9177

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Ala111Gly	CA254692 NM_000344.4:c.332C>G