Allele Registry

Canonical Allele Identifier: PA130946

Gene: RTEL1 HGNC NCBI

ClinVar RCV:

RCV000034859

RCV000586180

ClinVar Variation:

42017

HGVS (amino-acid)	Matching Registered Transcripts
NP_116575.3:p.Gly763Val	CA130945 NM_032957.5:c.2288G>T