Canonical Allele Identifier: PA2826680193
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436594
ClinVar RCV Id: RCV000503523 RCV000765496 RCV001272192 RCV002446980 RCV004535619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269938.1:p.Pro996His
CA9965693
NM_001283009.2:c.2987C>A