Allele Registry

Canonical Allele Identifier: PA094597

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009745

ClinVar Variation:

9172

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Asp44Val	CA254683 NM_000344.4:c.131A>T