Allele Registry

Canonical Allele Identifier: PA143854

Gene: RNF216 HGNC NCBI

ClinVar RCV:

RCV000043627

ClinVar Variation:

50912

HGVS (amino-acid)	Matching Registered Transcripts
NP_996994.1:p.Arg751Cys	CA143853 NM_207111.4:c.2251C>T