ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617270
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365339
ClinVar RCV Id:
RCV000328640
RCV000383186
RCV000699627
RCV000999251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Arg2605Gln
CA5296314
NM_001351527.2:c.7814G>A