ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616720
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579898
ClinVar RCV Id:
RCV000703290
RCV003140115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Ile1457Val
CA5297214
NM_001351527.2:c.4369A>G