ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826681224
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034859
RCV000586180
ClinVar Variation:
42017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269939.1:p.Gly516Val
CA130945
NM_001283010.1:c.1547G>T