ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100209
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034864
RCV002513344
ClinVar Variation:
42022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057518.1:p.Glu251Lys
CA130956
NM_016434.4:c.751G>A