ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662296
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448343
ClinVar RCV Id:
RCV000524648
RCV000518213
RCV003233692
RCV004541620
RCV001814998
RCV003233693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Arg2380Gln
CA5296494
NM_015046.7:c.7139G>A