Canonical Allele Identifier: PA130948
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42018
ClinVar RCV Id: RCV000034860 RCV000201662 RCV000524079 RCV000586517 RCV000814441 RCV002222150 RCV002513343 RCV003329238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269938.1:p.Arg1264His
CA130947
NM_001283009.2:c.3791G>A