Allele Registry

Canonical Allele Identifier: PA094617

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV003489437

ClinVar Variation:

2690717

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Gly275Ser	CA120725213 NM_000344.4:c.823G>A