Allele Registry

Canonical Allele Identifier: PA916067466

Gene: SIL1 HGNC NCBI

ClinVar RCV:

RCV000202671

RCV000872718

ClinVar Variation:

218488

HGVS (amino-acid)	Matching Registered Transcripts
NP_071909.1:p.Glu347Lys	CA248870 NM_022464.5:c.1039G>A