Allele Registry

Canonical Allele Identifier: PA3057257997

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV004576184

ClinVar Variation:

3239716

HGVS (amino-acid)	Matching Registered Transcripts
NP_075012.1:p.Tyr244Cys	CA360097322 NM_022874.2:c.731A>G