ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826681170
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65413
ClinVar RCV Id:
RCV000055635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Ile476Met
CA144779
NM_001283010.1:c.1428C>G