ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144778
Gene: RTEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055634
RCV002464103
RCV002513726
RCV003258663
ClinVar Variation:
65412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269938.1:p.Cys1244Arg
CA144777
NM_001283009.2:c.3730T>C