ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829836036
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540965
ClinVar RCV Id:
RCV000651138
RCV002257911
RCV003151123
RCV003327441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Thr893Met
CA9965497
NM_016434.4:c.2678C>T