Allele Registry

Canonical Allele Identifier: PA2826845558

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009753

RCV000785814

ClinVar Variation:

9176

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Gly95Arg	CA254690 NM_001297715.1:c.283G>C CA360093339 NM_001297715.1:c.283G>A