ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826679099
Gene: RTEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2931662
ClinVar RCV Id:
RCV003792684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Asp241Asn
CA409671971
NM_001283009.2:c.721G>A