Allele Registry

Canonical Allele Identifier: PA2829216549

Gene: SMG7 HGNC NCBI

ClinVar Allele:

2222193

ClinVar RCV:

RCV004104943

ClinVar Variation:

2239241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001381067.1:p.Phe340Leu	CA343687753 NM_001394138.1:c.1018T>C CA343687759 NM_001394138.1:c.1020T>A CA343687762 NM_001394138.1:c.1020T>G