Allele Registry

Canonical Allele Identifier: PA261144

Gene: SMN1 HGNC NCBI

ClinVar Allele:

48112

ClinVar RCV:

RCV000032709

ClinVar Variation:

39513

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Tyr130His	CA261142 NM_000344.4:c.388T>C