ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826679178
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000536702
RCV000990339
RCV001007595
RCV001829595
RCV002404541
RCV003480684
ClinVar Variation:
473899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Arg324His
CA9964547
NM_001283009.2:c.971G>A