ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827616631
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
411570
ClinVar RCV:
RCV000515884
RCV000560688
RCV000859602
RCV001169791
RCV001169792
RCV002356794
RCV004541530
ClinVar Variation:
424692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Gln1276Glu
CA5297318
NM_001351527.2:c.3826C>G