ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829835276
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000478358
RCV000688506
RCV000984211
RCV002255417
ClinVar Variation:
422356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Arg550Cys
CA9964910
NM_016434.4:c.1648C>T