Canonical Allele Identifier: PA130950
Gene: RTEL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42019
ClinVar RCV Id: RCV000034861 RCV000586033 RCV000824065 RCV003129760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116575.3:p.Met516Ile
CA130949
NM_032957.5:c.1548G>T
CA409676418
NM_032957.5:c.1548G>A
CA409676419
NM_032957.5:c.1548G>C