Allele Registry

Canonical Allele Identifier: PA916069002

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009745

ClinVar Variation:

9172

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Asp44Val	CA254683 NM_022874.2:c.131A>T