Allele Registry

Canonical Allele Identifier: PA094700

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009737

RCV000518253

RCV002470706

ClinVar Variation:

9166

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Tyr272Cys	CA254677 NM_000344.4:c.815A>G