ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826678847
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436596
ClinVar RCV Id:
RCV000503722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Pro17Ser
CA409657490
NM_001283009.2:c.49C>T