Allele Registry

Canonical Allele Identifier: PA130957

Gene: RTEL1 HGNC NCBI

ClinVar RCV:

RCV000034864

RCV002513344

ClinVar Variation:

42022

HGVS (amino-acid)	Matching Registered Transcripts
NP_116575.3:p.Glu275Lys	CA130956 NM_032957.5:c.823G>A