Allele Registry

Canonical Allele Identifier: PA2826845566

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000032709

ClinVar Variation:

39513

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Tyr130His	CA261142 NM_001297715.1:c.388T>C